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TI: [Serous macular detachment complicating colobomatous optic disk pit. Apropos of a case]
TO: Decollement sereux maculaire compliquent une fossette colobomateuse de la papille. A propos d'un cas.
AU: Mohand-Said-M; Korobelnik-JF; Aussedat-V; Cyrot-G; Hoang-Xuan-T
AD: Service d'Ophtalmologie, Hopital Bichat, Paris.
SO: J-Fr-Ophtalmol. 1997; 20(1): 61-4
ISSN: 0181-5512
PY: 1997
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: We report the case of a 19-year-old man, who presented with serous macular detachment as first sign of an optic disc pit. Argon laser photocoagulation of the temporal edge of the disc, associated with gas (C3F8) tamponade and face down positioning allowed retinal flattening and improvement of vision.
MESH: Adult-; Coloboma-surgery; English-Abstract; Fluorocarbons-administration-and-dosage; Laser-Coagulation; Laser-Surgery; Retinal-Detachment-surgery
MESH: *Coloboma-complications; *Macula-Lutea; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
RN: 0
NM: Fluorocarbons
AN: 97254047
UD: 9707
MEDLINE EXPRESS (R) 1/97-8/97 2 of 74
TI: Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
AU: Schimmenti-LA; Cunliffe-HE; McNoe-LA; Ward-TA; French-MC; Shim-HH; Zhang-YH; Proesmans-W; Leys-A; Byerly-KA; Braddock-SR; Masuno-M; Imaizumi-K; Devriendt-K; Eccles-MR
AD: Department of Pediatrics, University of California, Los Angeles, School of Medicine, USA.
SO: Am-J-Hum-Genet. 1997 Apr; 60(4): 869-78
ISSN: 0002-9297
PY: 1997
LA: ENGLISH
CP: UNITED-STATES
AB: Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene. The PAX2 gene, which encodes a DNA-binding protein, is expressed in the developing ear, CNS, eye, and urogenital tract. Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns suggest that auditory and CNS abnormalities may be additional features of renal-coloboma syndrome. To determine whether additional clinical features are associated with PAX2 mutations, we have used PCR-SSCP to identify PAX2 gene mutations in patients. We report here four patients with mutations in exon 2, one of whom has severe ocular and renal disease, microcephaly, and retardation, and another who has ocular and renal disease with high-frequency hearing loss. Unexpectedly, extreme variability in clinical presentation was observed between a mother, her son, and an unrelated patient, all of whom had the same PAX2 mutation as previously described in two siblings with renal-coloboma syndrome. These results suggest that a sequence of seven Gs in PAX2 exon 2 may be particularly prone to mutation.
MESH: Adult-; Child-; Cloning,-Molecular; Exons-genetics; Middle-Age; Molecular-Sequence-Data; Mutation-; Phenotype-; Sequence-Analysis,-DNA; Syndrome-; Variation-Genetics
MESH: *Abnormalities,-Multiple-genetics; *Coloboma-genetics; *DNA-Binding-Proteins-genetics; *Kidney-abnormalities; *Optic-Nerve-abnormalities; *Transcription-Factors-genetics
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0; 0; 0
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors
AN: 97260413
UD: 9707
SI: GENBANK/Y07617
MEDLINE EXPRESS (R) 1/97-8/97 3 of 74
TI: Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
AU: Narahara-K; Baker-E; Ito-S; Yokoyama-Y; Yu-S; Hewitt-D; Sutherland-GR; Eccles-MR; Richards-RI
AD: Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.
SO: J-Med-Genet. 1997 Mar; 34(3): 213-6
ISSN: 0022-2593
PY: 1997
LA: ENGLISH
CP: ENGLAND
AB: We describe a 5 year old boy with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (ONCR). On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46,XY,t(10;13)(q24.3;q12.3) or t(10;13) (q25.2;q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B. These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with ONCR. Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1.
MESH: Child,-Preschool; Chromosome-Abnormalities-genetics; Chromosomes,-Human,-Pair-13-genetics; In-Situ-Hybridization,-Fluorescence; Proteinuria-; Syndrome-
MESH: *Chromosomes,-Human,-Pair-10-genetics; *Coloboma-genetics; *DNA-Binding-Proteins-genetics; *Kidney-Diseases-genetics; *Optic-Nerve-abnormalities; *Transcription-Factors-genetics; *Translocation-Genetics-genetics
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0; 0; 0
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors
AN: 97227388
UD: 9707
MEDLINE EXPRESS (R) 1/97-8/97 4 of 74
TI: The equine fundus. II: Normal anatomical variants and colobomata.
AU: Matthews-AG; Crispin-SM; Parker-J
AD: Department of Veterinary Surgery, University of Bristol.
SO: Equine-Vet-J-Suppl. 1990 Sep(10): 50-4
PY: 1990
LA: ENGLISH
CP: ENGLAND
AB: A wide range of fundic variants are encountered during routine ophthalmoscopic examination of visually normal horses, often causing the examiner difficulty in assessing their clinical significance. Many of these are anatomical variants having no significant effect on visual function, and lie within the limits of normality in the horse. This paper illustrates this range of variants and discusses their anatomical basis and physiological consequences. Colobomata are non-progressive discontinuities in the structure of the anatomic fundus, occasionally noted as incidental findings during ophthalmoscopy. This paper illustrates typical and atypical colobomata of the equine fundus, the latter occurring outside the embryonic optic fissure. The anatomical basis of these colobomata and their possible consequence on vision is discussed.
MESH: Coloboma-pathology; Optic-Disk-pathology
MESH: *Coloboma-veterinary; *Fundus-Oculi; *Horse-Diseases-pathology; *Horses-anatomy-and-histology; *Macula-Lutea-anatomy-and-histology; *Ophthalmoscopy-veterinary; *Optic-Disk-abnormalities
TG: Animal; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 97234265
UD: 9706
MEDLINE EXPRESS (R) 1/97-8/97 5 of 74
TI: Bilateral colobomas involving the optic discs in a quarterhorse.
AU: Wheeler-CA; Collier-LL
AD: Department of Small Animal Medicine, College of Veterinary Medicine, Michigan State University, East Lansing 48824-1314, USA.
SO: Equine-Vet-J-Suppl. 1990 Sep(10): 39-41
PY: 1990
LA: ENGLISH
CP: ENGLAND
MESH: Blindness-genetics; Blindness-pathology; Blindness-veterinary; Coloboma-genetics; Coloboma-pathology; Eye-Color; Horse-Diseases-genetics; Horses-; Hypopigmentation-genetics; Hypopigmentation-pathology; Hypopigmentation-veterinary; Optic-Disk-pathology; Uveal-Diseases-genetics; Uveal-Diseases-pathology; Uveal-Diseases-veterinary
MESH: *Coloboma-veterinary; *Horse-Diseases-pathology; *Optic-Disk-abnormalities
TG: Animal; Case-Report; Male
PT: JOURNAL-ARTICLE
AN: 97234263
UD: 9706
MEDLINE EXPRESS (R) 1/97-8/97 6 of 74
TI: Optic disc in fundus coloboma.
AU: Gopal-L; Badrinath-SS; Kumar-KS; Doshi-G; Biswas-N
AD: Sankara Nethralaya, Medical Foundation, Madras, India.
SO: Ophthalmology. 1996 Dec; 103(12): 2120-6; discussion 2126-7
ISSN: 0161-6420
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE: To categorize and describe the type of optic disc involvement and blood vessel patterns seen in patients with fundus coloboma. METHODS: This is a prospective study involving 67 eyes of 40 patients with choroidal coloboma. The evaluation included documentation of fundus details using fundus drawings or photographs, or both. RESULTS: Six types of disc involvement were identified: (1) normal disc outside fundus coloboma (27.8%); (2) disc outside the fundus coloboma and abnormal (10.4%); (3) disc outside the fundus coloboma and independently colobomatous (8.9%); (4) disc within the fundus coloboma and normal (5.0%); (5) disc within the fundus coloboma and colobomatous (44.3%); and (6) disc shape not identified but blood vessels seen emanating from the superior border of the large fundus coloboma (2.9%). Visual acuity was better in types I, II, and III compared with IV, V, and VI. Microphthalmos was more common with the more severe anomalies. High myopia was more common in the less severe anomalies. CONCLUSION: Optic disc involvement in fundus coloboma is widely variable. Of fundus colobomas, 67.2% are associated with either a frankly colobomatous or an altered disc. Of the discs located outside fundus colobomas, 41% are also abnormal. Visual acuity was better in types I, II, and III.
MESH: Adolescence-; Adult-; Child-; Choroid-abnormalities; Choroid-pathology; Choroid-physiopathology; Coloboma-pathology; Coloboma-physiopathology; Iris-abnormalities; Microphthalmos-etiology; Middle-Age; Myopia-etiology; Nystagmus-etiology; Optic-Disk-pathology; Optic-Disk-physiopathology; Prospective-Studies; Retinal-Detachment-etiology; Retinal-Vessels-pathology; Visual-Acuity-physiology; Visual-Fields
MESH: *Coloboma-classification; *Fundus-Oculi; *Optic-Disk-abnormalities
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 97156966
UD: 9704
MEDLINE EXPRESS (R) 1/97-8/97 7 of 74
TI: Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia.
AU: Kivela-T; Salonen-R; Paetau-A
AD: Department of Ophthalmology, Helsinki University Central Hospital, Finland. tekivela@cc.helsinki.fi
SO: Acta-Neuropathol-Berl. 1996; 91(5): 511-8
ISSN: 0001-6322
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: Ophthalmic pathological findings of hydrolethalus, a midline malformation syndrome, were determined in three fetuses aborted between the 14th and 19th gestational week. The eyes were serially sectioned and analyzed using light microscopy and a panel of 13 antibodies to neuronal, glial, epithelial, and mesenchymal elements of the eye. The general morphological and antigenic development of the anterior segment, retina and choroid were normal, but some lens fibers were vacuolated and irregular in all eyes. A coloboma of the optic nerve was constant and corresponded in its severity to the systemic manifestations. It ranged from segmental dysplasia of the optic nerve head to a colobomatous orbital cyst with secondary microphthalmos and deranged development of the eye. Glial tissue extended through a defect in the sheaths of the optic nerve in three eyes, communicating with retinoblastic tissue in the orbit. Evidence of secondary optic nerve hypoplasia was present in all eyes, and a separate chorioretinal coloboma was present in one eye. Ocular anomalies should be considered one hallmark of hydrolethalus syndrome, and they may help to differentiate it from other overlapping malformation syndromes. In particular, colobomatous dysplasia and hypoplasia of the optic nerve seem to be typical of hydrolethalus syndrome. Histopathological studies of the eyes may help the neuropathologist in making the differential diagnosis of midline malformation syndromes.
MESH: Adult-; Fetal-Development; Hydrocephalus-mortality; Middle-Age; Pregnancy-; Syndrome-
MESH: *Abnormalities,-Multiple-pathology; *Brain-abnormalities; *Coloboma-pathology; *Hydrocephalus-pathology; *Optic-Nerve-abnormalities; *Optic-Nerve-pathology; *Polyhydramnios-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 96312727
UD: 9703
MEDLINE EXPRESS (R) 1/97-8/97 8 of 74
TI: Neuro-ophthalmologic findings in the Asperger disorder.
AU: Brodsky-MC; Barber-LG; Lam-BL; Merin-LM; Edelson-S
AD: University of Arkansas for Medical Sciences, Little Rock, USA.
SO: J-Neuroophthalmol. 1996 Sep; 16(3): 185-7
ISSN: 1070-8022
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Asperger disorder is a complex behavioral disorder that may be related to autism. We examined a 49-year-old man with Asperger disorder who had multiple neuro-ophthalmologic abnormalities, including colobomatous defects involving the optic discs and peripapillary retina, and abnormal ocular motility with an oculocephalic dyskinesia. Asperger disorder may be associated with a variety of neuro-ophthalmologic disturbances.
MESH: Autism-pathology; Autism-physiopathology; Coloboma-pathology; Coloboma-physiopathology; Middle-Age; Ocular-Motility-Disorders-pathology; Ocular-Motility-Disorders-physiopathology; Ophthalmoscopy-; Visual-Acuity
MESH: *Autism-complications; *Coloboma-complications; *Ocular-Motility-Disorders-complications; *Optic-Disk-abnormalities; *Retina-abnormalities
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 97018395
UD: 9703
MEDLINE EXPRESS (R) 1/97-8/97 9 of 74
TI: [Vitrectomy-laser-gas for treating optic disk pits complicated by serous macular detachment]
TO: Vitrectomie-laser-gaz pour le traitement des fossettes colobomateuses de la papille compliquees de decollement sereux retinien maculaire.
AU: Taiel-Sartral-M; Mimoun-G; Glacet-Bernard-A; Delayre-T; Coscas-G
AD: Clinique Ophtalmologique Universitaire de Creteil, Centre Hospitalier Intercommunal.
SO: J-Fr-Ophtalmol. 1996; 19(10): 603-9
ISSN: 0181-5512
PY: 1996
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: PURPOSE: Optic nerve pit is a rare congenital anomaly. In two third of the patients, the severity of the disease is increased by the apparition of a serous macular detachment, which may compromise the visual prognosis. The aim of this study is to propose a therapy appropriate to such complication. METHODS: A prospective study was performed including 10 patients with a serous macular detachment caused by optic nerve pit. All patients underwent intraocular surgery including vitrectomy, peripapillary photocoagulation and intravitreal injection of gas. The mean postoperative follow-up period was 9.5 months. RESULTS: Therapy success was based on anatomical and functional results. Serous macular detachment reattached in 7 patients out of 10 and a recurrence was observed in one case. Visual acuity improved from 0 to 18 lines of the EDTRS chart (mean increase: 6.7 lines). CONCLUSION: These results confirm that intraocular surgery including vitrectomy-photocoagulation-gas injection is a valuable treatment for serous macular detachment associated with optic nerve pit.
MESH: Adolescence-; Adult-; Child-; Coloboma-therapy; Combined-Modality-Therapy; English-Abstract; Fluorocarbons-administration-and-dosage; Laser-Coagulation; Middle-Age; Prospective-Studies; Retinal-Detachment-therapy; Vitrectomy-
MESH: *Coloboma-complications; *Macula-Lutea; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
RN: 0
NM: Fluorocarbons
AN: 97118218
UD: 9703
MEDLINE EXPRESS (R) 1/97-8/97 10 of 74
TI: [A case of morning glory syndrome associated with contractile movement of the optic disc and subretinal neovascularization]
AU: Chuman-H; Nao-i-N; Sawada-A
AD: Department of Ophthalmology, Miyazaki Medical College, Japan.
SO: Nippon-Ganka-Gakkai-Zasshi. 1996 Sep; 100(9): 705-9
ISSN: 0029-0203
PY: 1996
LA: JAPANESE; NON-ENGLISH
CP: JAPAN
AB: We report a rare case of morning glory syndrome with choroidal neovascular membrane and contractile movement of the optic disc. A 12-year-old healthy boy was first seen in April 1992 with a chief complaint of transient visual loss in his left eye for 3 months. The diagnosis of morning glory syndrome was made by the characteristic optic nerve head. His visual acuity was 1.2 in both eyes. In August 1994, retinal hemorrhage associated with choroidal neovascular membrane was observed in the macula of his left eye, resulting in a decrease of visual acuity to 0.4. In October 1994, we observed contractile movement in the morning glory optic disc. Using a scanning laser ophthalmoscope (SLO), we could observe the disc contracting for approximately 2 seconds and then dilating again over a 20-second period. The contractile movement was not evoked by exposure to a strong light or by the Valsalva maneuver. However, it seemed to be induced by digital massage of the eyeball.
MESH: Child-; English-Abstract; Movement-; Optic-Disk-pathology
MESH: *Choroid-blood-supply; *Coloboma-pathology; *Coloboma-physiopathology; *Neovascularization,-Pathologic; *Optic-Disk-physiopathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 97062120
UD: 9702
MEDLINE EXPRESS (R) 1/97-8/97 11 of 74
TI: [A case of nonrhegmatogenous retinal detachment in Dandy-Walker Syndrome]
AU: Sakurai-E; Shirai-S; Ozeki-H; Majima-A
AD: Department of Opthalmology, Nagoya City University Medical School, Aichi-ken, Japan.
SO: Nippon-Ganka-Gakkai-Zasshi. 1996 Oct; 100(10): 832-6
ISSN: 0029-0203
PY: 1996
LA: JAPANESE; NON-ENGLISH
CP: JAPAN
AB: A 2-month-old female presented with nonrhegmatogenous retinal detachment in Dandy-Walker syndrome. At the fist examination, coloboma involving the optic disc in both eyes was detected. The left eye showed microphthalmos with sclerocornea, persistent pupillary membrane, hypoplasia of the iris stroma, and bullous retinal detachment near the optic disc. Chromosomal analysis revealed a mosaic pattern: 46, XX/47, XXX. Increased intracranial pressure associated with Dandy-Walker syndrome was detected by a neurosurgeon at the age of 3 months. The patient was followed for several weeks, and then nonrhegmatogenous retinal detachment appeared in the right eye. Subretinal fluid alternately increased and decreased in both eyes. A ventriculo-peritoneal shunt was performed at the age of 6 months, and the retinal detachment was remarkably reduced in both eyes after lowering of intracranial pressure. Coloboma involving the optic disc, sclerocornea, persistent pupillary membrane, hypoplasia of iris stroma, and Dandy-Walker syndrome were thought to be caused by the abnormal development of neural crest cells. We surmised that the retinal detachment in this case might have resulted from a communicating pathway between the subarachnoid space and the subretinal space. We concluded that the etiology of retinal detachment associated with optic disc anomaly should be investigated to determine adequate treatment.
MESH: Coloboma-complications; English-Abstract; Infant-; Optic-Disk-abnormalities
MESH: *Dandy-Walker-Syndrome-complications; *Retinal-Detachment-etiology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 97091391
UD: 9702
MEDLINE EXPRESS (R) 1/97-8/97 12 of 74
TI: Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma.
AU: Williams-TD
AD: School of Optometry, University of Waterloo, Ontario, Canada.
SO: Optom-Vis-Sci. 1996 Jul; 73(7): 506-10
ISSN: 1040-5488
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: A case is reported in which large colobomas of the retina and choroid are found bilaterally in a young female who also has a pituitary tumor and mental retardation. Visual field data are presented and correlated with the retinal appearances. Relevant embryology is reviewed, and a table of systemic abnormalities associated with retinal/choroidal colobomas is presented.
MESH: Adenoma-pathology; Adenoma-physiopathology; Adult-; Choroid-physiopathology; Coloboma-physiopathology; Fundus-Oculi; Iris-physiopathology; Optic-Disk-physiopathology; Pituitary-Neoplasms-pathology; Pituitary-Neoplasms-physiopathology; Retina-physiopathology; Visual-Acuity; Visual-Fields-physiology
MESH: *Choroid-abnormalities; *Coloboma-diagnosis; *Iris-abnormalities; *Optic-Disk-abnormalities; *Retina-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 96440821
UD: 9702
MEDLINE EXPRESS (R) 1/97-8/97 13 of 74
TI: Predicting visual acuity in children with colobomas involving the optic nerve.
AU: Olsen-TW; Summers-CG; Knobloch-WH
AD: Department of Ophthalmology, University of Minnesota, Minneapolis, USA.
SO: J-Pediatr-Ophthalmol-Strabismus. 1996 Jan-Feb; 33(1): 47-51
ISSN: 0191-3913
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: BACKGROUND: This study evaluates the relationship to visual acuity of four ophthalmoscopic features of colobomas involving the optic nerve. The goal was to identify those features that could predict potential visual acuity of children with these colobomas. METHODS: Fundus photographs of 23 eyes with colobomas involving the optic nerve met the entry criteria and were evaluated by two masked observers. The following features were evaluated: coloboma size, optic nerve color, foveal development, and subfoveal retinal pigment epithelial changes. Simple linear regression was used to identify the feature that most closely correlated with visual acuity. Refractive status was assessed by cycloplegic refraction. RESULTS: The only component that correlated with the development of good visual acuity was the degree of foveal involvement by the optic nerve coloboma (P = .002, R = 0.8). Significant refractive error and anisometropia were common in patients with colobomas involving the optic nerve. CONCLUSION: Central visual acuity in children born with colobomas involving the optic nerve correlates with the development of normal foveal anatomy, regardless of the size of the coloboma, the color of the optic nerve, or the presence of subfoveal pigmentary changes. Because refractive error is common, these children should receive an accurate refraction and amblyopia treatment.
MESH: Child,-Preschool; Coloboma-pathology; Forecasting-; Fundus-Oculi; Infant-; Ophthalmoscopy-; Optic-Nerve-pathology; Refraction,-Ocular; Retrospective-Studies
MESH: *Coloboma-physiopathology; *Optic-Nerve-abnormalities; *Visual-Acuity
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 96215791
UD: 9702
MEDLINE EXPRESS (R) 1992-1996 14 of 74
TI: Genomic structure of the human PAX2 gene.
AU: Sanyanusin-P; Norrish-JH; Ward-TA; Nebel-A; McNoe-LA; Eccles-MR
AD: Cancer Genetics Laboratory, University of Otago, Dunedin, New Zealand.
SO: Genomics. 1996 Jul 1; 35(1): 258-61
ISSN: 0888-7543
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: PAX2 is one of nine PAX genes that have been described in vertebrates. Each PAX gene contains a conserved paired box domain that was first identified in Drosophila. PAX2 encodes a transcription factor that has a critical role in the development of the urogenital tract, the eyes, and the CNS. Recently, we reported a mutation of PAX2 in patients with optic nerve coloboma, vesicoureteric reflux, and renal anomalies. To facilitate further analysis of PAX2 mutations in human disease, we have now determined the complete structure of the human PAX2 gene. Five genomic lambda clones containing human PAX2 gene sequences were isolated. Sequencing and restriction mapping of these clones showed that human PAX2 was composed of 12 exons spanning approximately 70 kb. Two alternatively spliced exons and a dinuclotide repeat polymorphism were also determined in PAX2. These data will be useful in characterizing the role of PAX2 in human disease.
MESH: Abnormalities,-Multiple-genetics; Alleles-; Bacteriophage-lambda-genetics; Base-Sequence; Cloning,-Molecular; Coloboma-genetics; Dinucleotide-Repeats; Exons-genetics; Kidney-abnormalities; Molecular-Sequence-Data; Optic-Nerve-abnormalities
MESH: *DNA-Binding-Proteins-genetics; *Genes,-Homeobox; *Transcription-Factors-genetics
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0; 0; 0
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors
AN: 96299768
UD: 9612
SI: GENBANK/U45245; GENBANK/U45246; GENBANK/U45247; GENBANK/U45248; GENBANK/U45249; GENBANK/U45250; GENBANK/U45251; GENBANK/U45252; GENBANK/U45253; GENBANK/U45254; GENBANK/U45255
MEDLINE EXPRESS (R) 1992-1996 15 of 74
TI: Imaging in optic nerve coloboma.
AU: Pyhtinen-J; Lindholm-EL
AD: Department of Diagnostic Radiology, University of Oulu, Finland.
SO: Neuroradiology. 1996 Feb; 38(2): 171-4
ISSN: 0028-3940
PY: 1996
LA: ENGLISH
CP: GERMANY
MESH: Brain-pathology; Child,-Preschool; Coloboma-genetics; Follow-Up-Studies; Infant-; Optic-Nerve-pathology; Orbit-pathology
MESH: *Coloboma-diagnosis; *Diagnostic-Imaging; *Optic-Nerve-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 96239913
UD: 9610
MEDLINE EXPRESS (R) 1992-1996 16 of 74
TI: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
AU: Sanyanusin-P; Schimmenti-LA; McNoe-TA; Ward-TA; Pierpont-ME; Sullivan-MJ; Dobyns-WB; Eccles-MR
SO: Nat-Genet. 1996 May; 13(1): 129
ISSN: 1061-4036
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
MESH: Base-Sequence; DNA-Primers; Exons-; Molecular-Sequence-Data
MESH: *Coloboma-genetics; *Kidney-abnormalities; *Optic-Nerve-abnormalities; *Vesico-Ureteral-Reflux-genetics
TG: Human
PT: PUBLISHED-ERRATUM
RN: 0
NM: DNA-Primers
AN: 96305849
UD: 9610
MEDLINE EXPRESS (R) 1992-1996 17 of 74
TI: Posterior segment neovascularization associated with optic nerve aplasia.
AU: Lee-BL; Bateman-JB; Schwartz-SD
AD: Department of Ophthalmology, Jules Stein Eye Institute, University of California Los Angeles School of Medicine 90095-7000, USA.
SO: Am-J-Ophthalmol. 1996 Jul; 122(1): 131-3
ISSN: 0002-9394
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE: To report the presence of posterior segment neovascularization in eyes with optic nerve aplasia. METHODS: Three eyes in two patients with clinical optic nerve aplasia were studied. RESULTS: Examination disclosed posterior segment neovascularization in one eye and progressive posterior segment neovascularization in two eyes. CONCLUSIONS: Posterior segment neovascularization may occur in association with optic nerve aplasia. Retinal ischemia or retinochoroidal anatomic disorganization, or both, may provide the stimulus for neovascularization in such eyes.
MESH: Coloboma-etiology; Electroretinography-; Infant-; Iris-abnormalities; Microphthalmos-etiology; Optic-Disk-abnormalities; Retinal-Hemorrhage-etiology; Retinal-Hemorrhage-pathology; Retinal-Neovascularization-pathology; Retinal-Neovascularization-physiopathology; Vitreous-Hemorrhage-etiology; Vitreous-Hemorrhage-pathology
MESH: *Optic-Nerve-abnormalities; *Retinal-Neovascularization-etiology
TG: Case-Report; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: EY088282EYNEI
AN: 96271326
UD: 9610
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 18 of 74
TI: Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.
AU: Konrad-H; Merriam-JC; Jones-IS
AD: Edward S. Harkness Eye Institute, College of Physicians and Surgeons, Columbia University, New York, USA.
SO: Trans-Am-Ophthalmol-Soc. 1995; 93: 219-40; discussion 241-4
ISSN: 0065-9533
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance.
MESH: Abnormalities,-Multiple-pathology; Adult-; Child,-Preschool; Coloboma-genetics; Coloboma-pathology; Eye-Abnormalities-pathology; Eyelids-pathology; Face-abnormalities; Iris-abnormalities; Iris-pathology; Oculomotor-Muscles-abnormalities; Oculomotor-Muscles-pathology; Optic-Nerve-abnormalities; Optic-Nerve-pathology; Orbit-radiography; Skull-abnormalities; Syndactyly-surgery
MESH: *Abnormalities,-Multiple-surgery; *Eye-Abnormalities-surgery; *Eyelids-abnormalities; *Eyelids-surgery; *Orbit-surgery; *Surgery,-Plastic
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96358710
UD: 9612
MEDLINE EXPRESS (R) 1992-1996 19 of 74
TI: Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
AU: Schimmenti-LA; Pierpont-ME; Carpenter-BL; Kashtan-CE; Johnson-MR; Dobyns-WB
AD: Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, USA.
SO: Am-J-Med-Genet. 1995 Nov 6; 59(2): 204-8
ISSN: 0148-7299
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene.
MESH: Adolescence-; Adult-; Child-; DNA-Binding-Proteins-genetics; Genes,-Dominant; Kidney-ultrasonography; Pedigree-; Sequence-Deletion; Syndrome-; Transcription-Factors-genetics
MESH: *Abnormalities,-Multiple-genetics; *Coloboma-genetics; *Kidney-abnormalities; *Optic-Nerve-abnormalities; *Vesico-Ureteral-Reflux-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
RN: 0; 0; 0
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors
AN: 96126324
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 20 of 74
TI: Mutation of PAX2 in two siblings with renal-coloboma syndrome.
AU: Sanyanusin-P; McNoe-LA; Sullivan-MJ; Weaver-RG; Eccles-MR
AD: Department of Biochemistry, University of Otago, Dunedin, New Zealand.
SO: Hum-Mol-Genet. 1995 Nov; 4(11): 2183-4
ISSN: 0964-6906
PY: 1995
LA: ENGLISH
CP: ENGLAND
MESH: DNA-Binding-Proteins-metabolism; Syndrome-; Transcription-Factors-metabolism
MESH: *Coloboma-genetics; *DNA-Binding-Proteins-genetics; *Kidney-Diseases-genetics; *Mutation-; *Optic-Nerve-abnormalities; *Pigment-Epithelium-of-Eye-abnormalities; *Transcription-Factors-genetics
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0; 0; 0
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors
AN: 96154696
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 21 of 74
TI: Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity.
AU: Merlob-P; Horev-G; Kremer-I; Nissenkorn-I
AD: Department of Neonatology, Children's Medical Center of Israel, Petah Tiqva, Israel.
SO: Clin-Dysmorphol. 1995 Oct; 4(4): 313-8
ISSN: 0962-8827
PY: 1995
LA: ENGLISH
CP: ENGLAND
AB: The association of Morning Glory anomaly with intracranial pathology has been rarely described and seems to be a distinct one. A 41-week full-term infant presenting with Morning Glory anomaly and multiple major and minor anomalies with a normal karyotype is described. Right Parieto-occipital porencephaly with mild hydrocephaly of lateral ventricle, right brain atrophy and enlarged thalami were observed by repeated ultrasound, computed tomography and magnetic resonance imaging examinations. Fundoscopy, visual evoked response and electroretinography revealed bilateral colobomas of the optic nerve, bilateral Morning Glory optic disc anomaly, severe exotropia and medial recti paralysis. Non-obstructive, non-refluxing left hydronephrosis and left hydroureter were diagnosed by renal investigations. To the best of our knowledge the association of the described malformations has never been previously reported. The clinical and nosological significance of this new entity is discussed.
MESH: Adult-; Atrophy-; Follow-Up-Studies; Fundus-Oculi; Infant,-Newborn; Occipital-Lobe-pathology; Occipital-Lobe-radiography; Optic-Disk-abnormalities; Parietal-Lobe-pathology; Parietal-Lobe-radiography; Psychomotor-Disorders-diagnosis; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Coloboma-diagnosis; *Hydronephrosis-diagnosis; *Occipital-Lobe-abnormalities; *Optic-Nerve-abnormalities; *Parietal-Lobe-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96127339
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 22 of 74
TI: Morning glory optic disc anomaly associated with chronic renal disease.
AU: Torralbo-A; Nebro-S; Remartinez-E; Martinez-Sanz-F; Leon-F
AD: Hemodialysis Unit, Hospital Comarcal de Melilla, Spain.
SO: Nephrol-Dial-Transplant. 1995; 10(9): 1762-4
ISSN: 0931-0509
PY: 1995
LA: ENGLISH
CP: ENGLAND
MESH: Adolescence-; Coloboma-pathology; Coloboma-radiography; Kidney-Failure,-Chronic-complications; Kidney-Failure,-Chronic-pathology; Optic-Disk-radiography; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Coloboma-genetics; *Kidney-Failure,-Chronic-genetics; *Optic-Disk-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96099827
UD: 9605
MEDLINE EXPRESS (R) 1992-1996 23 of 74
TI: Coloboma of the optic disk associated with retinal vascular abnormalities.
AU: Theodossiadis-GP; Damanakis-AG; Theodossiadis-PG
AD: Department of Ophthalmology, University of Athens, Greece.
SO: Am-J-Ophthalmol. 1995 Dec; 120(6): 798-800
ISSN: 0002-9394
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE: We studied a case of congenital optic disk pit and coloboma with associated malformations of the retinal vessels. METHODS: Slit-lamp biomicroscopy and fluorescein angiography were performed. RESULTS: Multiple retinal venous anastomoses associated with a congenital coloboma and pit of the optic disk were observed. The retinal vascular anomalies extended from the optic disk to the temporal periphery. CONCLUSIONS: We consider the coexistence of retinal venous anastomoses with optic disk coloboma and pit to be an extremely rare congenital retinal anomaly.
MESH: Child-; Fluorescein-Angiography
MESH: *Abnormalities,-Multiple-pathology; *Coloboma-pathology; *Optic-Disk-abnormalities; *Optic-Disk-pathology; *Retinal-Vessels-abnormalities; *Retinal-Vessels-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96094727
UD: 9604
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 24 of 74
TI: Pathogenesis of retinal detachment associated with morning glory disc.
AU: Bartz-Schmidt-KU; Heimann-K
AD: University Eye Clinic Koln, Germany.
SO: Int-Ophthalmol. 1995; 19(1): 35-8
ISSN: 0165-5701
PY: 1995
LA: ENGLISH
CP: NETHERLANDS
AB: Pars plana vitrectomy was performed on a six-year-old boy with complete retinal detachment associated with a morning glory disc of his left eye. Perfluorodecalin was injected to unfold the retina. During surgery, perfluorodecalin leaked repeatedly under the retina. This case demonstrates that a retinal hole in tissues lying within the optic disc anomaly provides a communication for fluid and perfluorodecalin between the subretinal space and vitreous cavity resulting in a rhegmatogenous retinal detachment in the morning glory syndrome.
MESH: Child-; Coloboma-pathology; Fluorocarbons-administration-and-dosage; Laser-Surgery; Optic-Disk-pathology; Retinal-Detachment-pathology; Retinal-Detachment-surgery; Retinal-Perforations-pathology; Vitrectomy-
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology; *Retinal-Perforations-complications
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
RN: 0; 306-94-5
NM: Fluorocarbons; perfluorodecalin
AN: 96051624
UD: 9604
MEDLINE EXPRESS (R) 1992-1996 25 of 74
TI: Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome.
AU: Brei-TJ; Burke-MJ; Rubinstein-JH
AD: Department of Pediatrics, James Whitcomb Riley Children's Hospital Medical Center, Cincinnati, Ohio, USA.
SO: J-Pediatr-Ophthalmol-Strabismus. 1995 Jul-Aug; 32(4): 248-52
ISSN: 0191-3913
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocornea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year-old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.
MESH: Diagnosis,-Differential; Infant,-Newborn
MESH: *Coloboma-complications; *Corneal-Diseases-complications; *Glaucoma-complications; *Optic-Nerve-abnormalities; *Retinal-Diseases-complications; *Rubinstein-Taybi-Syndrome-complications
TG: Case-Report; Female; Human; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
CN: MCJ399156010
AN: 96114976
UD: 9603
MEDLINE EXPRESS (R) 1992-1996 26 of 74
TI: [Colobomatous fossette of the optic papilla and juxtapapillary choroidal malignant melanoma]
TO: Foseta colobomatoasa a papilei nervului optic si melanom malign coroidian juxtapapilar.
AU: Chercota-V; Munteanu-G
AD: Clinica de Oftalmologie, Timisoara.
SO: Oftalmologia. 1995 Oct-Dec; 39(4): 307-10
ISSN: 1120-0875
PY: 1995
LA: ROMANIAN; NON-ENGLISH
CP: ROMANIA
AB: The paper presents a clinical case of colobomatous fossette of the optic nerve papilla complicated with macular decolation, in association with the malignant melanoma of the choroid. Some aspects of the pathogeny of the retinal decoloration are discussed in this context. Some possible corrections between the two border retinal decolorations--the serous interpapillary macular decoloration and the retinal decoloration secondary to the melanoma of the choroid--are also proposed.
MESH: Coloboma-complications; English-Abstract; Fluorescein-Angiography; Middle-Age; Retinal-Detachment-etiology; Retinal-Detachment-pathology
MESH: *Choroid-Neoplasms-pathology; *Coloboma-pathology; *Melanoma-pathology; *Optic-Disk-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96046137
UD: 9602
MEDLINE EXPRESS (R) 1992-1996 27 of 74
TI: Blepharophimosis syndrome: association with colobomatous microphthalmos.
AU: Lee-LR; Sullivan-TJ
AD: Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland.
SO: Aust-N-Z-J-Ophthalmol. 1995 May; 23(2): 145-7
ISSN: 0814-9763
PY: 1995
LA: ENGLISH
CP: AUSTRALIA
AB: OBJECTIVE: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. RESULT: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy. Inheritance in this case was autosomal dominant from the maternal side. CONCLUSION: Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome. Ophthalmologists should be aware of this association.
MESH: Child,-Preschool; Coloboma-pathology; Eyelid-Diseases-pathology; Microphthalmos-pathology; Prognosis-; Syndrome-; Vision-
MESH: *Choroid-abnormalities; *Coloboma-genetics; *Eyelid-Diseases-genetics; *Iris-abnormalities; *Microphthalmos-genetics; *Optic-Disk-abnormalities; *Retina-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96055820
UD: 9601
MEDLINE EXPRESS (R) 1992-1996 28 of 74
TI: Colobomatous microphthalmos in a New Zealand white rabbit, arising from a colony with suspected vitamin E deficiency.
AU: Nielsen-JN; Carlton-WW
AD: Purdue University, West Lafayette, IN 47907, USA.
SO: Lab-Anim-Sci. 1995 Jun; 45(3): 320-2
ISSN: 0023-6764
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
MESH: Coloboma-etiology; Coloboma-pathology; Microphthalmos-etiology; Microphthalmos-pathology; Optic-Nerve-pathology; Sclera-pathology; Vitamin-E-Deficiency-complications
MESH: *Coloboma-veterinary; *Microphthalmos-veterinary; *Rabbits-abnormalities; *Vitamin-E-Deficiency-veterinary
TG: Animal; Case-Report
PT: JOURNAL-ARTICLE
AN: 95379257
UD: 9512
MEDLINE EXPRESS (R) 1992-1996 29 of 74
TI: New familial association between ocular coloboma and loose anagen syndrome.
AU: Murphy-MF; McGinnity-FG; Allen-GE
AD: Department of Ophthalmology, Royal Group of Hospitals, Belfast, N. Ireland, UK.
SO: Clin-Genet. 1995 Apr; 47(4): 214-6
ISSN: 0009-9163
PY: 1995
LA: ENGLISH
CP: DENMARK
AB: We present two cases of loose anagen syndrome associated with ocular coloboma in two siblings of unaffected parents and with no family history. We believe they represent a new familial association between these two conditions.
MESH: Child,-Preschool; Hair-Diseases-pathology; Infant-; Syndrome-
MESH: *Coloboma-pathology; *Hair-Diseases-congenital; *Optic-Nerve-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95354329
UD: 9511
MEDLINE EXPRESS (R) 1992-1996 30 of 74
TI: Aicardi's syndrome. A clinicopathological report.
AU: Allaire-GS; Michaud-J; Polomeno-RC; Dube-J
AD: Department of Pathology, Hopital Notre-Dame, Montreal, Que.
SO: Can-J-Ophthalmol. 1995 Apr; 30(3): 154-8
ISSN: 0008-4182
PY: 1995
LA: ENGLISH
CP: CANADA
MESH: Coloboma-pathology; Corpus-Callosum-pathology; Corpus-Callosum-radiography; Fatal-Outcome; Infant,-Newborn; Microphthalmos-pathology; Microphthalmos-radiography; Optic-Nerve-pathology; Pigment-Epithelium-of-Eye-pathology; Syndrome-; Tomography,-X-Ray-Computed
MESH: *Choroid-Diseases-pathology; *Corpus-Callosum-abnormalities; *Optic-Nerve-abnormalities; *Retinal-Diseases-pathology; *Spasms,-Infantile-pathology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 95354085
UD: 9511
MEDLINE EXPRESS (R) 1992-1996 31 of 74
TI: Optic nerve coloboma in Down syndrome [letter]
AU: De-Souza-CF; Berbigier-GA; Costa-F; Ruschel-SP; Silva-T; Schuler-L
SO: Clin-Dysmorphol. 1995 Apr; 4(2): 176-7
ISSN: 0962-8827
PY: 1995
LA: ENGLISH
CP: ENGLAND
MESH: Coloboma-genetics; Down-Syndrome-genetics; Infant,-Newborn
MESH: *Coloboma-complications; *Down-Syndrome-complications; *Optic-Nerve-abnormalities
TG: Case-Report; Human; Male
PT: LETTER
AN: 95330153
UD: 9510
MEDLINE EXPRESS (R) 1992-1996 32 of 74
TI: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
AU: Sanyanusin-P; Schimmenti-LA; McNoe-LA; Ward-TA; Pierpont-ME; Sullivan-MJ; Dobyns-WB; Eccles-MR
AD: Department of Biochemistry, University of Otago, Dunedin, New Zealand.
SO: Nat-Genet. 1995 Apr; 9(4): 358-63
ISSN: 1061-4036
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicoureteral reflux. We report a single nucleotide deletion in exon five, causing a frame-shift of the PAX2 coding region in the octapeptide domain. The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development.
MESH: Adolescence-; Adult-; Base-Sequence; Child-; Chromosome-Mapping; DNA-genetics; DNA-Binding-Proteins-genetics; Exons-; Genes,-Dominant; Mice-; Mice,-Mutant-Strains; Molecular-Sequence-Data; Pedigree-; Transcription-Factors-genetics
MESH: *Abnormalities,-Multiple-genetics; *Coloboma-genetics; *Frameshift-Mutation; *Kidney-abnormalities; *Optic-Nerve-abnormalities; *Vesico-Ureteral-Reflux-genetics
TG: Animal; Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
GS: PAX2
PT: JOURNAL-ARTICLE
RN: 0; 0; 0; 9007-49-2
NM: DNA-Binding-Proteins; Pax-2-protein; Transcription-Factors; DNA
AN: 95315985
UD: 9510
SI: GENBANK/U45245; GENBANK/U45246; GENBANK/U45247; GENBANK/U45248; GENBANK/U45249; GENBANK/U45250; GENBANK/U45251; GENBANK/U45252; GENBANK/U45253; GENBANK/U45254; GENBANK/U45255
MEDLINE EXPRESS (R) 1992-1996 33 of 74
TI: Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders.
AU: Torralbo-A; Pina-E; Portoles-J; Sanchez-Fructuoso-A; Barrientos-A
AD: Department of Nephrology, San Carlos University Hospital, Madrid, Spain.
SO: Nephron. 1995; 69(4): 472-5
ISSN: 0028-2766
PY: 1995
LA: ENGLISH
CP: SWITZERLAND
AB: We report a case of congenital magnesium-losing kidney with associated hypercalciuria and ocular derangements consisting of myopia, bilateral macular colobomata and bilateral papillary dysversion and hypoplasia. Our patient provides further evidence of the existence of an oculorenal syndrome associating abnormalities in the renal handling of magnesium and calcium, and myopia and chorioretinal disease.
MESH: Adult-; Coloboma-complications; Kidney-Diseases-metabolism; Macula-Lutea-abnormalities; Myopia-complications; Optic-Disk-abnormalities; Syndrome-
MESH: *Calcium-urine; *Eye-Diseases-complications; *Kidney-Diseases-complications; *Magnesium-Deficiency-complications; *Nephrocalcinosis-complications
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
RN: 7440-70-2
NM: Calcium
AN: 95295890
UD: 9509
MEDLINE EXPRESS (R) 1992-1996 34 of 74
TI: Ophthalmoscopic evolution of papillary colobomatous malformations.
AU: Villalonga-Gornes-PA; Galan-Terraza-A; Gil-Gibernau-JJ
AD: Pediatric Ophthalmologic Unit, Hospital Materno-Infantil, Ciudad Sanitaria Vall D'Hebron, Univ Autonoma of Barcelona, Spain.
SO: J-Pediatr-Ophthalmol-Strabismus. 1995 Jan-Feb; 32(1): 20-5
ISSN: 0191-3913
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: We describe congenital colobomatous malformations of the optic nerve and the clinical variations and complications that may appear eventually in them. We also present two clinical cases of patients with papillary colobomatous defects where spontaneous variations have been observed throughout their evolution and where the current ophthalmoscopic aspect is completely different from the initial one. Finally, bearing in mind the embryologic origin and histologic structure of these anomalies, we develop a hypothesis that explains the physiopathologic mechanism that causes the clinical changes described in each case.
MESH: Coloboma-complications; Fundus-Oculi; Infant-; Optic-Disk-abnormalities; Optic-Disk-pathology; Optic-Nerve-pathology; Retinal-Diseases-etiology; Retinal-Diseases-pathology; Tomography,-X-Ray-Computed
MESH: *Coloboma-pathology; *Ophthalmoscopy-methods; *Optic-Nerve-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95271437
UD: 9508
MEDLINE EXPRESS (R) 1992-1996 35 of 74
TI: Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.
AU: Brodsky-MC; Hoyt-WF; Hoyt-CS; Miller-NR; Lam-BL
AD: Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, USA.
SO: Arch-Ophthalmol. 1995 May; 113(5): 624-8
ISSN: 0003-9950
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: OBJECTIVE: To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs. METHODS: Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively. RESULTS: Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect. CONCLUSION: In patients with optic disc dysplasias, the finding of this V- or tongue-shaped retinochoroidal pigmentary anomaly should prompt neuroimaging to look for transsphenoidal encephalocele.
MESH: Adolescence-; Adult-; Child-; Child,-Preschool; Choroid-pathology; Coloboma-pathology; Encephalocele-pathology; Optic-Disk-pathology; Retina-pathology; Retinal-Dysplasia-pathology; Retrospective-Studies
MESH: *Choroid-abnormalities; *Coloboma-complications; *Encephalocele-complications; *Optic-Disk-abnormalities; *Retina-abnormalities; *Retinal-Dysplasia-complications
TG: Case-Report; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
AN: 95267011
UD: 9508
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 36 of 74
TI: Repair of retinal detachment associated with congenital excavated defects of the optic disc.
AU: Brown-GC; Brown-MM
AD: Retina Vascular Unit, Wills Eye Hospital, Thomas Jefferson University School of Medicine, Philadelphia, Pa, USA.
SO: Ophthalmic-Surg. 1995 Jan-Feb; 26(1): 11-5
ISSN: 0022-023X
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: Excavated defects of the optic disc have been associated with retinal detachment in the macula and beyond. Included among these defects are congenital pits of the optic disc, optic nerve colobomas, and the morning glory syndrome. We report eight consecutive patients with congenital, excavated defects of the optic disc and associated retinal detachment managed with pars plana vitrectomy, laser photocoagulation, and intravitreal gas injection.
MESH: Adolescence-; Adult-; Aged-; Child-; Fluorescein-Angiography; Fundus-Oculi; Laser-Coagulation; Middle-Age; Retinal-Detachment-etiology; Sulfur-Hexafluoride; Vitrectomy-
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Optic-Nerve-abnormalities; *Retinal-Detachment-surgery
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 2551-62-4
NM: Sulfur-Hexafluoride
AN: 95265415
UD: 9508
MEDLINE EXPRESS (R) 1992-1996 37 of 74
TI: Ophthalmoscopic visualization of the inferior ophthalmic vein through a chorioretinal coloboma.
AU: Sallet-G; Gous-PN; Roux-P
AD: Department of Ophthalmology, University of Ghent.
SO: Am-J-Ophthalmol. 1995 Feb; 119(2): 242-3
ISSN: 0002-9394
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: PURPOSE/METHODS: In a patient with a coloboma of the optic nerve, inferior retina and choroid, and deep portions of the sclera, a retrobulbar vessel moved irregularly relative to the retinal vessels, which moved contiguously with the posterior globe. RESULTS/CONCLUSION: Fluorescein angiography showed the retrobulbar vessel filling slightly later than overlying retinal vessels. We conclude that the retrobulbar vessel was a vein situated inferiorly to the optic nerve.
MESH: Adult-; Fluorescein-Angiography; Fundus-Oculi; Ophthalmoscopy-; Regional-Blood-Flow-physiology; Retinal-Vein-physiology; Veins-physiology
MESH: *Choroid-abnormalities; *Coloboma-physiopathology; *Eye-blood-supply; *Optic-Nerve-abnormalities; *Retina-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 95133635
UD: 9504
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 38 of 74
TI: Optic nerve aplasia associated with macular 'atypical coloboma'.
AU: Recupero-SM; Lepore-GF; Plateroti-R; Abdolrahimzadeh-S
AD: Universita degli Studi di Roma La Sapienza, Cattedra di Ottica Fisiopatologica, Italy.
SO: Acta-Ophthalmol-Copenh. 1994 Dec; 72(6): 768-70
ISSN: 0001-639X
PY: 1994
LA: ENGLISH
CP: DENMARK
AB: A 12-year-old patient presenting with absence of the optic disc and retinal blood vessels associated with atrophic macular lesion was studied. A toxoplasma IgG antibody test had been found positive at the age of 4 months. This test and the clinical findings suggested the possibility of optic nerve aplasia with atypical macular coloboma due to congenital toxoplasmosis. The pro's and contra's concerning this hypothesis are discussed by the authors.
MESH: Atrophy-; Child-; Coloboma-pathology; Optic-Nerve-pathology; Retinal-Vessels-pathology
MESH: *Coloboma-etiology; *Macula-Lutea-pathology; *Optic-Nerve-abnormalities; *Retinal-Vessels-abnormalities; *Toxoplasmosis,-Congenital-complications
TG: Animal; Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 95266435
UD: 9508
MEDLINE EXPRESS (R) 1992-1996 39 of 74
TI: [Treatment of coloboma pitS of the optic nerve complicated by serous detachment of the neuroepithelium]
TO: Traitement des fossettes colobomateuses de la papille compliquees de decollement sereux du neuroepithelium.
AU: Monin-C; Le-Guen-Y; Morel-C; Haut-J
AD: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris.
SO: J-Fr-Ophtalmol. 1994; 17(10): 574-9
ISSN: 0181-5512
PY: 1994
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: PURPOSE: The pathogenesis of the sensory retinal detachment of the macula associated with congenital pit of the optic nerve remains controversal. Based on our cases and the cases reported in literature, we propose a management plan for macular retinal detachment associated with optic nerve pit. METHODS: In this retrospective study ten eyes were treated for progressive visual loss. Treatment modalities were different depending on the time period: laser photocoagulation (to the juxtapapillary region) alone, laser combined with intraocular gas injection (C3 F8), laser combined with vitrectomy and intraocular gas tamponnade (S F6, C3 F8), laser combined with vitrectomy and temporary silicone oil tamponade. RESULTS: The follow-up period ranged between one and five years (mean follow-up thirty three months). We had eight successes and two definitive failures (an old macular detachment treated only by one laser session, and a young girl who had not kept the prone position after gas injection). In the group of six eyes treated by laser alone, only two retinal treatments were directly successfully treated; in three other eyes, the detachment recurred and was treated with success in a second step by a gas injection; the sixth eye is the first definitive failure (old detachment). In the five eyes treated by laser combined gas injection with or without pars plana vitrectomy (including three failures of laser alone), the retina remained attached in four eyes during the follow-up period; the sixth eye was the second definitive failure (the young girl). In the both eyes treated by vitrectomy and silicon oil injection, the retina has flattened. CONCLUSION: The results suggest that laser photocoagulation alone is not so efficient and that vitrectomy is not necessary with gas injection. Complete resorption of subretinal fluid occurred in eight eyes: two with laser photocoagulation alone, and six with a long term tamponnade combined with a peripapillary laser photocoagulation. In first treatment, this technique (laser with tamponade) is a valuable approach to manage serous macular detachment associated with optic nerve pit.
MESH: Adolescence-; Adult-; Child-; Coloboma-complications; Coloboma-physiopathology; English-Abstract; Middle-Age; Retinal-Detachment-etiology; Retrospective-Studies
MESH: *Coloboma-surgery; *Laser-Coagulation; *Macula-Lutea; *Optic-Nerve-abnormalities; *Retinal-Detachment-surgery
TG: Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 95122961
UD: 9504
MEDLINE EXPRESS (R) 1992-1996 40 of 74
TI: Self-assessment quiz. Coloboma of the optic nerve and retina.
AU: Servodidio-CA; Abramson-DH; Martin-SP; Afran-SI
SO: J-Ophthalmic-Nurs-Technol. 1994 Sep-Oct; 13(5): 240, C3
ISSN: 0744-7132
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Child-; Coloboma-ultrasonography; Diagnosis,-Differential; Optic-Nerve-ultrasonography; Retina-ultrasonography
MESH: *Coloboma-diagnosis; *Optic-Nerve-abnormalities; *Retina-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 95074841
UD: 9503
SB: NURSING
MEDLINE EXPRESS (R) 1992-1996 41 of 74
TI: Optic nerve coloboma (morning glory syndrome): CT findings.
AU: Murphy-BL; Griffin-JF
AD: Department of Diagnostic Imaging, St Vincent's Hospital, Dublin, Ireland.
SO: Radiology. 1994 Apr; 191(1): 59-61
ISSN: 0033-8419
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: This study demonstrates computed tomographic (CT) findings of morning glory syndrome. CT examination of the orbits was performed in three patients. Images of 2-mm-thick sections were acquired at 2-mm intervals without use of contrast material. Excellent demonstration of coloboma was achieved in each case. Because both magnetic resonance imaging and ultrasonography have limitations in imaging of coloboma, CT is the imaging method of choice in diagnosis of this disorder.
MESH: Child-; Infant-; Optic-Nerve-radiography
MESH: *Coloboma-radiography; *Optic-Nerve-abnormalities; *Tomography,-X-Ray-Computed
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94181805
UD: 9406
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 42 of 74
TI: Peripapillary subretinal neovascularization associated with coloboma of the optic nerve [letter; comment]
CM: Comment on: Arch Ophthalmol 1993 Apr;111(4):552-3
AU: Bloom-SM
SO: Arch-Ophthalmol. 1994 Feb; 112(2): 154
ISSN: 0003-9950
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: *Coloboma-complications; *Optic-Nerve-abnormalities; *Retinal-Neovascularization-complications
TG: Human
PT: COMMENT; LETTER
AN: 94145400
UD: 9405
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 43 of 74
TI: Morning glory disc anomaly or optic disc coloboma? [letter; comment]
CM: Comment on: Arch Ophthalmol 1993 Apr;111(4):441-2
AU: Traboulsi-EI
SO: Arch-Ophthalmol. 1994 Feb; 112(2): 153
ISSN: 0003-9950
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Diagnosis,-Differential; Syndrome-
MESH: *Coloboma-diagnosis; *Optic-Disk-abnormalities; *Optic-Nerve-abnormalities
TG: Human
PT: COMMENT; LETTER
AN: 94145399
UD: 9405
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 44 of 74
TI: Morning glory disc anomaly or optic disc coloboma? [letter; comment]
CM: Comment on: Arch Ophthalmol 1993 Apr;111(4):441-2
AU: Brodsky-MC
SO: Arch-Ophthalmol. 1994 Feb; 112(2): 153
ISSN: 0003-9950
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
MESH: Diagnosis,-Differential; Fundus-Oculi; Syndrome-
MESH: *Coloboma-diagnosis; *Optic-Disk-abnormalities; *Optic-Nerve-abnormalities
TG: Human
PT: COMMENT; LETTER
AN: 94145398
UD: 9405
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 45 of 74
TI: Peripapillary choroidal neovascular membrane associated with an optic nerve coloboma [letter] [see comments]
CM: Comment in: Arch Ophthalmol 1994 Feb;112(2):153
AU: Dailey-JR; Cantore-WA; Gardner-TW
SO: Arch-Ophthalmol. 1993 Apr; 111(4): 441-2
ISSN: 0003-9950
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
MESH: Cell-Membrane; Choroid-surgery; Fluorescein-Angiography; Fundus-Oculi; Laser-Surgery; Middle-Age; Neovascularization,-Pathologic-surgery; Retinal-Neovascularization-complications; Retinal-Neovascularization-surgery
MESH: *Choroid-blood-supply; *Coloboma-complications; *Neovascularization,-Pathologic-complications; *Optic-Nerve-abnormalities
TG: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PT: LETTER
AN: 93228479
UD: 9307
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 46 of 74
TI: [Treatment of macular detachment complicating optic disk coloboma pits. Long-term results of the photocoagulation-gas combination]
TO: Traitement du decollement maculaire compliquant une fossette colobomateuse de la papille. Resultats a long terme de l'association photocoagulation-gaz.
AU: Yanyali-A; Bonnet-M
AD: Clinique ophtalmologique universitaire B, UER Lyon-Nord, Hopital de la Croix-Rousse.
SO: J-Fr-Ophtalmol. 1993; 16(10): 523-31
ISSN: 0181-5512
PY: 1993
LA: FRENCH; NON-ENGLISH
CP: FRANCE
AB: We managed 19 eyes of 19 patients with serous macular detachment associated with optic nerve pits with photocoagulation of the temporal edge of the optic disc combined with intravitreal injection of an expanding gas. SF6 was used in 8 eyes, and C3F8 in 11 eyes at the initial treatment. Eight eyes (42%) had repeated treatment because of failed initial treatment and/or late recurrence(s). Eighteen patients were followed up for 4 to 110 months (mean follow-up: 39 months). At the last examination the macula was attached in 17 of 18 eyes (94.4%). However 3 patients (17.6%) showed a limited serous retinal detachment distant from the macula. The results achieved after single treatment were better with C3F8 than with SF6 (78.5% versus 57% anatomical success rate). During the follow-up period, 5 eyes (27.7%) developed one or two late recurrences. Macular reattachment occurred spontaneously in 2 eyes and after repeated C3F8 injection in 3 eyes. The final visual acuity was improved by 0.1 to 0.6 as compared to the initial visual acuity in 12 patients (66.6%). Ten patients (55.5%) had a final visual acuity > or = 0.5 and > or = Parinaud scale no. 2. We believe that photocoagulation treatment combined with C3F8 intravitreal injection is a valuable approach to the management of serous macular detachment associated with optic nerve pits. However the treatment also shows limitations, in particular the need for repeated treatment in failed eyes and/or eyes with late recurrences.
MESH: Adolescence-; Adult-; Child-; Combined-Modality-Therapy; English-Abstract; Follow-Up-Studies; Middle-Age; Prognosis-; Recurrence-; Time-Factors; Visual-Acuity
MESH: *Coloboma-complications; *Light-Coagulation; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology; *Retinal-Detachment-therapy; *Sulfur-Hexafluoride-therapeutic-use
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
RN: 2551-62-4
NM: Sulfur-Hexafluoride
AN: 94132475
UD: 9405
MEDLINE EXPRESS (R) 1992-1996 47 of 74
TI: An unusual fundus finding in a patient with optic nerve pit syndrome.
AU: Gunduz-K; Gunduz-K; Okudan-S; Ozbayrak-H
AD: University Eye Clinic, Konya, Turkey.
SO: Doc-Ophthalmol. 1993; 84(2): 171-8
ISSN: 0012-4486
PY: 1993
LA: ENGLISH
CP: NETHERLANDS
AB: In a study of 12 patients with optic nerve pits, a female patient presented an unusual fundus finding in which there were many flat grey-white lesions in both eyes. These lesions covered a large area of the fundus and extended from the posterior pole to the periphery. There was an optic pit in the right eye and an inferior coloboma in the left eye. The visual acuities and the clinical findings remained unchanged over the follow-up period of 2 years. Fluorescein angiographic and electrophysiological examinations suggested that these lesions were probably located at or beneath the retinal pigment epithelium.
MESH: Adolescence-; Adult-; Choroid-Diseases-pathology; Coloboma-pathology; Fluorescein-Angiography; Follow-Up-Studies; Middle-Age; Optic-Disk-pathology; Retinal-Diseases-pathology; Syndrome-; Visual-Acuity
MESH: *Fundus-Oculi; *Optic-Disk-abnormalities
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 94130702
UD: 9405
MEDLINE EXPRESS (R) 1992-1996 48 of 74
TI: Optic disc coloboma associated with macular hole and retinal detachment.
AU: Biedner-B; Klemperer-I; Dagan-M; Yassur-Y
AD: Department of Ophthalmology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
SO: Ann-Ophthalmol. 1993 Sep; 25(9): 350-2
ISSN: 0003-4886
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: A 15-year-old myopic girl had a retinal detachment associated with optic disc coloboma and a macular hole. The retinal detachment was treated successfully with vitrectomy, drainage of the subretinal fluid, and gas tamponade. The possibility of a macular hole should be investigated in myopic eyes with optic disc colobomas and retinal detachments. To the best of our knowledge, such a combination has not been described previously.
MESH: Adolescence-; Fundus-Oculi; Myopia-complications; Retinal-Detachment-surgery; Retinal-Perforations-surgery; Visual-Acuity; Vitrectomy-
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Retinal-Detachment-complications; *Retinal-Perforations-complications
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 94127777
UD: 9405
MEDLINE EXPRESS (R) 1992-1996 49 of 74
TI: Congenital lens coloboma and associated pathologies.
AU: Bavbek-T; Ogut-MS; Kazokoglu-H
AD: Marmara University, School of Medicine, Department of Ophthalmology, Istanbul, Turkey.
SO: Doc-Ophthalmol. 1993; 83(4): 313-22
ISSN: 0012-4486
PY: 1993
LA: ENGLISH
CP: NETHERLANDS
AB: Coloboma of the lens is characterized by notching of the equator of the lens. The cause of the condition is faulty development of the zonule. The lens deprived of its normal pull in the defective region is thicker and more spherical as if there were no loss of its substance. We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies. One case included retinal detachment; another included an iris coloboma; and a third included iris, choroid and optic disk colobomas and retinal detachment with lens coloboma. The remaining two cases were without associated ocular anomalies. The pathogenic mechanisms and relationship of this defect with the differentiation of the tertiary vitreous and development of the zonule is discussed. The defect most likely occurs in the third to fourth months of gestation during differentiation of the tertiary vitreous in response to toxic, inflammatory or genetic factors.
MESH: Adolescence-; Adult-; Child-; Choroid-abnormalities; Iris-abnormalities; Optic-Disk-abnormalities; Retinal-Detachment-complications
MESH: *Coloboma-complications; *Lens,-Crystalline-abnormalities
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94038487
UD: 9402
MEDLINE EXPRESS (R) 1992-1996 50 of 74
TI: [Malformation syndromes: the diagnostic approach and follow-up in ocular pathology]
TO: Le sindromi malformative: approccio diagnostico e follow-up della patologia oculare.
AU: Bardelli-AM
AD: Istituto di Scienze Oftalmologiche e Neurochirurgiche, Universita di Siena, Italia.
SO: Pediatr-Med-Chir. 1993 May-Jun; 15 Suppl 1: 34-7; discussion 37-8
ISSN: 0391-5387
PY: 1993
LA: ITALIAN; NON-ENGLISH
CP: ITALY
AB: Ocular defects are often found in association with many systemic disorders. Some are already present at birth, but in other cases they develop in early infancy or later in life. They are found associated with connective tissue disorders, neurological conditions, chromosomal abnormalities and dermatological disorders. Some of these syndromes have a genetic basis but often it is uncertain whether they are inherited and their cause is unknown.
MESH: Abnormalities,-Multiple-epidemiology; Adolescence-; Cataract-congenital; Cataract-diagnosis; Cataract-epidemiology; Child-; Child,-Preschool; Coloboma-diagnosis; Coloboma-epidemiology; English-Abstract; Eye-Abnormalities-epidemiology; Follow-Up-Studies; Infant-; Lens,-Crystalline-abnormalities; Optic-Atrophy,-Hereditary-diagnosis; Optic-Atrophy,-Hereditary-epidemiology; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Eye-Abnormalities-diagnosis
TG: Human
PT: JOURNAL-ARTICLE
AN: 94021618
UD: 9401
MEDLINE EXPRESS (R) 1992-1996 51 of 74
TI: Noonan's syndrome with keratoconus and optic disc coloboma.
AU: Ascaso-FJ; Del-Buey-MA; Huerva-V; Latre-B; Palomar-A
AD: Department of Ophthalmology, University Clinic Hospital, Zaragoza, Spain.
SO: Eur-J-Ophthalmol. 1993 Apr-Jun; 3(2): 101-3
ISSN: 1120-6721
PY: 1993
LA: ENGLISH
CP: ITALY
AB: We report the case of a 14-year-old girl with multiple findings characteristic of Noonan's syndrome, including short stature, mild mental retardation, facial, skeletal and renal abnormalities. In addition, ophthalmic examination revealed a keratoconus in the left eye and a right optic disc coloboma. To date, only two cases of Noonan's syndrome with keratoconus have been reported, and this is the second case of this syndrome with optic disc coloboma. To our knowledge, this is the first report of Noonan's syndrome associated with unilateral keratoconus and contralateral optic disc coloboma. In view of the large number of patients with Noonan's syndrome reported to date and the rarity of these ocular abnormalities, it is most likely that this association is fortuitous. Ocular findings reported in patients with Noonan's syndrome are reviewed.
MESH: Adolescence-; Fundus-Oculi; Visual-Acuity
MESH: *Coloboma-complications; *Keratoconus-complications; *Noonan-Syndrome-complications; *Optic-Disk-abnormalities
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93357651
UD: 9311
MEDLINE EXPRESS (R) 1992-1996 52 of 74
TI: Scanning electron microscope evaluation of the corneal endothelium in a case of unilateral microphthalmos with retrobulbar cyst in the pigmented rabbit.
AU: Doughty-MJ; Sivak-JG
AD: School of Optometry, University of Waterloo, Ontario, Canada.
SO: Cornea. 1993 Jul; 12(4): 341-7
ISSN: 0277-3740
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: A case of unilateral microphthalmos with a sizeable retrobulbar cyst, totally dysplastic retina, and gross nerve head coloboma is reported in an otherwise normal pigmented rabbit. Despite the gross abnormality of the posterior part of the globe, an iris sectoral coloboma, and abnormal lentoid body, the cornea was complete but had moderate edema and a reduced diameter. Scanning electron microscopy and morphometric analysis of the corneal endothelium showed a fully tessellated mosaic of cells that displayed only modest pleomorphism and polymegethism.
MESH: Cell-Count; Coloboma-pathology; Microscopy,-Electron,-Scanning; Optic-Disk-abnormalities; Rabbits-; Retinal-Diseases-pathology
MESH: *Cysts-pathology; *Endothelium,-Corneal-ultrastructure; *Microphthalmos-pathology; *Orbital-Diseases-pathology
TG: Animal; Female
PT: JOURNAL-ARTICLE
AN: 93339066
UD: 9311
MEDLINE EXPRESS (R) 1992-1996 53 of 74
TI: Anomalous Cloquet's canal in a case of optic nervehead coloboma associated with extensive retinal detachment.
AU: Akiba-J; Yoshida-A; Ohta-I; Igarashi-H; Kakehashi-A
AD: Department of Ophthalmology, Asahikawa Medical College, Japan.
SO: Br-J-Ophthalmol. 1993 Jun; 77(6): 381-2
ISSN: 0007-1161
PY: 1993
LA: ENGLISH
CP: ENGLAND
MESH: Child,-Preschool; Follow-Up-Studies; Fundus-Oculi; Ophthalmoscopy-
MESH: *Abnormalities,-Multiple; *Coloboma-complications; *Optic-Nerve-abnormalities; *Retinal-Detachment-etiology; *Vitreous-Body-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93305650
UD: 9310
MEDLINE EXPRESS (R) 1992-1996 54 of 74
TI: A new neurocutaneous syndrome: nevus sebaceus syndrome.
AU: Kucukoduk-S; Ozsan-H; Turanli-AY; Dinc-H; Selcuk-M
AD: Department of Pediatrics, Ondokuz Mayis University, Samsun, Turkey.
SO: Cutis. 1993 Jun; 51(6): 437-41
ISSN: 0011-4162
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We describe a case of nevus sebaceus syndrome characterized by a linear sebaceous nevus, extending on the left half of the face from forehead to lower neck, including the auricle; alopecia on the temporoparietal region; generalized hypotonia; insufficiency of eyes in following moving objects and insufficiency in controlling the head; lipodermoid cysts in the left and right eyes; bilateral conjunctival masses; corneal vascularization in the right eye; coloboma of the left eyelid and right optic disc. This is a rare case of a sebaceous nevus occurring concomitantly with optical and central nervous system abnormalities.
MESH: Alopecia-pathology; Coloboma-pathology; Eyelids-abnormalities; Infant-; Optic-Disk-abnormalities; Syndrome-
MESH: *Dermoid-Cyst-pathology; *Eyelid-Neoplasms-pathology; *Facial-Neoplasms-pathology; *Neoplasms,-Multiple-Primary-pathology; *Nevus,-Pigmented-pathology; *Skin-Neoplasms-pathology
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 93299968
UD: 9309
MEDLINE EXPRESS (R) 1992-1996 55 of 74
TI: [Serous macular detachment caused by congenital optic pit]
TO: Surowicze odwarstwienie plamki spowodowane dolkiem rozwojowym tarczy nerwu wzrokowego.
AU: Pytlarz-E; Pecold-K
AD: Kliniki Okulistycznej, Poznaniu.
SO: Klin-Oczna. 1993 Jan; 95(1): 40-3
ISSN: 0023-2157
PY: 1993
LA: POLISH; NON-ENGLISH
CP: POLAND
AB: The observations concerning the treatment of 5 patients suffering from the serous macular detachment caused by the optic pit are presented. In all 5 cases, the laser photocoagulation along the temporal margin of disc was applied. The retinal attachment was obtained in 2 eyes.
MESH: Adolescence-; Adult-; English-Abstract; Laser-Coagulation; Middle-Age; Retinal-Detachment-surgery
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93240796
UD: 9307
MEDLINE EXPRESS (R) 1992-1996 56 of 74
TI: [Clinical examinations on pathogenesis and treatment of serous macular detachment associated with congenital optic pit]
TO: Badania kliniczne nad patogeneza i leczeniem surowiczego odwarstwienia plamki spowodowanego dolkiem wrodzonym tarczy.
AU: Prost-M
AD: Kliniki Okulistycznej AM, Lublinie.
SO: Klin-Oczna. 1993 Jan; 95(1): 35-9
ISSN: 0023-2157
PY: 1993
LA: POLISH; NON-ENGLISH
CP: POLAND
AB: The author reports two clinical tests performed in 6 patients for explaining the pathogenesis of serous macular detachment associated with congenital optic pit. The results of these tests indicate, that the detachment is caused by the fluid of vitreal origin. The treatment of this disease with the laser coagulation is also reported.
MESH: Adolescence-; Adult-; Child-; English-Abstract; Light-Coagulation-methods; Middle-Age; Retinal-Detachment-etiology
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Retinal-Detachment-surgery
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93240795
UD: 9307
MEDLINE EXPRESS (R) 1992-1996 57 of 74
TI: Peripapillary subretinal neovascularization associated with coloboma of the optic nerve [see comments]
CM: Comment in: Arch Ophthalmol 1994 Feb;112(2):154
AU: Yedavally-S; Frank-RN
AD: Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201.
SO: Arch-Ophthalmol. 1993 Apr; 111(4): 552-3
ISSN: 0003-9950
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
MESH: Coloboma-diagnosis; Fluorescein-Angiography; Fundus-Oculi; Middle-Age; Retinal-Neovascularization-diagnosis; Visual-Acuity
MESH: *Coloboma-complications; *Optic-Disk-blood-supply; *Optic-Nerve-abnormalities; *Retinal-Neovascularization-complications
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93228503
UD: 9307
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 58 of 74
TI: [Aicardi syndrome: a case report]
AU: Lin-CK; Tsai-RK; Jong-YJ
AD: Department of Ophthalmology, Kaohsiung Medical College, Taiwan, Republic of China.
SO: Kao-Hsiung-I-Hsueh-Ko-Hsueh-Tsa-Chih. 1992 Dec; 8(12): 692-6
ISSN: 0257-5655
PY: 1992
LA: CHINESE; NON-ENGLISH
CP: TAIWAN
AB: A 5-year-old girl had suffered from infantile spasms since 3 months of age. Cranial computerized tomography revealed agenesis of the corpus callosum. Abnormal ocular fundus features consisted of bilateral disc colobomas and lacunar pigment change in her right eye. The clinical presentations were consistent with Aicardi syndrome. The ophthalmologic manifestations of Aicardi syndrome will be discussed in this paper.
MESH: English-Abstract; Infant-; Syndrome-
MESH: *Coloboma-pathology; *Corpus-Callosum-abnormalities; *Optic-Nerve-abnormalities; *Pigment-Epithelium-of-Eye-abnormalities; *Spasms,-Infantile-etiology
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 93204240
UD: 9306
SB: DENTAL
MEDLINE EXPRESS (R) 1992-1996 59 of 74
TI: Spontaneous retinal reattachment in a patient with persistent hyperplastic primary vitreous and an optic nerve coloboma [letter]
AU: Shami-M; McCartney-D; Benedict-W; Barnes-C
SO: Am-J-Ophthalmol. 1992 Dec 15; 114(6): 769-71
ISSN: 0002-9394
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
MESH: Hyperplasia-; Infant-
MESH: *Coloboma-; *Optic-Nerve-abnormalities; *Retinal-Detachment; *Vitreous-Body-pathology
TG: Case-Report; Human; Male
PT: LETTER
AN: 93098295
UD: 9303
SB: AIM
MEDLINE EXPRESS (R) 1992-1996 60 of 74
TI: Typical ocular coloboma affects three generations in one family.
AU: Hayasaka-S; Furuse-N; Noda-S; Setogawa-T
AD: Department of Ophthalmology, Shimane Medical University, Izumo, Japan.
SO: Ann-Ophthalmol. 1992 Jun; 24(6): 209-12
ISSN: 0003-4886
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: We found bilateral colobomas of the iris, choroid, retina, and optic nerve head in a son, mother, and grandmother in one pedigree. This represents a rare incidence of typical ocular coloboma in three generations.
MESH: Adult-; Choroid-abnormalities; Choroid-pathology; Coloboma-pathology; Fundus-Oculi; Infant-; Iris-abnormalities; Iris-pathology; Middle-Age; Optic-Disk-abnormalities; Optic-Disk-pathology; Pedigree-; Retina-abnormalities; Retina-pathology
MESH: *Coloboma-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93073462
UD: 9302
MEDLINE EXPRESS (R) 1992-1996 61 of 74
TI: Corneal topography of posterior keratoconus.
AU: Mannis-MJ; Lightman-J; Plotnik-RD
AD: Department of Ophthalmology, University of California at Davis, Sacramento 95816.
SO: Cornea. 1992 Jul; 11(4): 351-4
ISSN: 0277-3740
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Posterior keratoconus is an unusual abnormality of the cornea generally classified as one of the anterior chamber cleavage anomalies. It is characterized clinically by the presence of a circumscribed or generalized corneal thinning with posterior depression of the cornea and is considered distinct from keratoconus. Although patients with posterior keratoconus may have visual complaints clearly related to their abnormal corneas, the surface topography of these corneas has not been studied in detail. Keratometry and photokeratoscopy provide an incomplete picture of the surface geometry of posterior keratoconus. We utilized computer assisted topographic analysis to study the cornea of a patient with posterior keratoconus. The Topographic Modeling System demonstrated that the patient's cornea showed a central steepened "cone" coincident with the area of circumscribed posterior keratoconus as well as paracentral flattening. This report documents the topographic abnormality in this rare disorder.
MESH: Cataract-Extraction; Coloboma-pathology; Keratoplasty,-Penetrating; Lenses,-Intraocular; Middle-Age; Optic-Nerve-abnormalities; Visual-Acuity
MESH: *Anterior-Chamber-pathology; *Image-Processing,-Computer-Assisted; *Keratoconus-pathology
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 93047993
UD: 9302
MEDLINE EXPRESS (R) 1992-1996 62 of 74
TI: Surgical treatment of retinal detachment in the choroidal colobomas.
AU: Corcostegui-B; Guell-JL; Garcia-Arumi-J
AD: Vitreoretinal Center, Universidad Autonoma of Barcelona, Spain.
SO: Retina. 1992; 12(3): 237-41
ISSN: 0275-004X
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: Seven eyes from seven patients with retinal detachment and choroidal coloboma (with or without optic disc involvement) were treated. The retinal break was always inside the colobomatous area, except in the cases with evidence of peripheral retinal breaks. In order to produce reattachment of the retina, vitrectomy procedures with removal of posterior hyaloid were used. Drainage of subretinal fluid was performed through the break in the area of the coloboma, with simultaneous fluid-air exchange. Previously undetected retinal breaks were identified by inspecting for the presence of schlieren in the colobomatous area during fluid-air exchange. A peripheral scleral buckle was then applied. Argon laser endophotocoagulation was performed, but when the coloboma involved the optic disc, red krypton endophotocoagulation was used. Retinal reattachment was achieved in all cases.
MESH: Adult-; Child-; Fundus-Oculi; Iris-abnormalities; Light-Coagulation; Optic-Disk-abnormalities; Scleral-Buckling; Visual-Acuity; Vitrectomy-
MESH: *Choroid-abnormalities; *Coloboma-surgery; *Retinal-Detachment-surgery
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93029924
UD: 9301
MEDLINE EXPRESS (R) 1992-1996 63 of 74
TI: Cilioretinal arteries in conjunction with a pit of the optic disc.
AU: Theodossiadis-GP; Kollia-AK; Theodossiadis-PG
AD: Department of Ophthalmology, School of Medicine, Athens University, Greece.
SO: Ophthalmologica. 1992; 204(3): 115-21
ISSN: 0030-3755
PY: 1992
LA: ENGLISH
CP: SWITZERLAND
AB: Cilioretinal arteries were noted to accompany pits of the optic disc in 16 of 25 cases (64%). Fourteen of the 16 cases were found to have 2 cilioretinal arteries (86%). The cilioretinal arteries were directly related to the pit of the disc and emerged either from the bottom or the margin of the pit in a proportion of 86%. This finding reinforces the assumption that the optic disc pit belongs to the same spectrum of congenital anomalies which also includes optic disc coloboma, megalopapilla and morning glory syndrome. A fluorescein angiography study showed hyperfluorescence of the pit in 12/16 cases and in particular in all the cases in which both cilioretinal arteries emerged from the pit. Hypofluorescence was noted in 7/9 cases in which the pit was not associated with cilioretinal arteries. Our findings could support the view that hyperfluorescence of the pit, which is not a constant phenomenon, mostly depends on the presence of cilioretinal arteries emerging from the pit.
MESH: Coloboma-pathology; Fluorescein-Angiography; Fundus-Oculi; Macula-Lutea-pathology; Optic-Disk-blood-supply; Retinal-Artery; Retinal-Detachment-pathology
MESH: *Ciliary-Body-blood-supply; *Optic-Disk-abnormalities
TG: Human
PT: JOURNAL-ARTICLE
AN: 92334788
UD: 9210
MEDLINE EXPRESS (R) 1992-1996 64 of 74
TI: The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients.
AU: Heher-KL; Traboulsi-EI; Maumenee-IH
AD: Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21205.
SO: Ophthalmology. 1992 Feb; 99(2): 241-5
ISSN: 0161-6420
PY: 1992
LA: ENGLISH
CP: UNITED-STATES
AB: The authors studied 35 patients with Leber's congenital amaurosis and assessed visual acuity, fundus appearance, and systemic findings. The patients were arbitrarily divided into five age groups. Visual acuities were comparable at all ages. Of 22 patients seen for follow-up examinations (mean length of follow-up, 5 years), vision worsened slightly in only 4 patients (3 with macular coloboma-like lesions and 1 with keratoconus). Fifty percent of retinal examinations in patients younger than 1 year of age were normal. With increasing age, retinal pigmentary changes became evident. All but four patients seen on more than one occasion developed progressive retinal/retinal pigment epithelium changes. Cataracts (5 patients) and keratoconus (3 patients) were present only in older patients (9 to 33 years of age). In Leber's congenital amaurosis, which probably comprises a number of genetically heterogenous conditions, visual acuity remains stable despite progressive retinal pigmentary changes. The subgroup of patients with macular colobomas, however, may develop progressive decrease in vision. Cataracts and keratoconus are additional factors contributing to visual impairment in older patients.
MESH: Adolescence-; Adult-; Cataract-etiology; Child-; Child,-Preschool; Coloboma-etiology; Corneal-Diseases-etiology; Follow-Up-Studies; Fundus-Oculi; Infant-; Macula-Lutea-abnormalities; Retinal-Diseases-etiology; Visual-Acuity
MESH: *Aging-physiology; *Optic-Atrophy,-Hereditary-physiopathology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 92204628
UD: 9207
MEDLINE EXPRESS (R) 1991 65 of 74
TI: Bilateral microphthalmos with orbital cyst--case report.
AU: Yoshihara-M; Ishizawa-A; Sato-K; Tamaki-H
AD: Department of Neurosurgery, Juntendo University School of Medicine, Tokyo.
SO: Neurol-Med-Chir-Tokyo. 1991 Apr; 31(4): 223-5
ISSN: 0470-8105
PY: 1991
LA: ENGLISH
CP: JAPAN
AB: A 3-month-old girl presented with a rare occurrence of bilateral microphthalmos associated with orbital cysts. She underwent subtotal removal of the right orbital cyst. Histological examination was compatible with microphthalmos with orbital cyst. Although microphthalmos associated with orbital cyst is rarely encountered, it must be considered in the differential diagnosis of orbital cystic lesions.
MESH: Blindness-etiology; Cysts-complications; Cysts-diagnosis; Cysts-surgery; Diagnosis,-Differential; Ear-abnormalities; Infant-; Nasal-Cavity-abnormalities; Orbital-Diseases-complications; Orbital-Diseases-diagnosis; Orbital-Diseases-surgery
MESH: *Abnormalities,-Multiple; *Blindness-congenital; *Coloboma-complications; *Cysts-congenital; *Fundus-Oculi; *Macula-Lutea-abnormalities; *Microphthalmos-etiology; *Optic-Nerve-abnormalities; *Orbital-Diseases-congenital
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE
AN: 92066114
UD: 9203
MEDLINE EXPRESS (R) 1991 66 of 74
TI: [Colobomatous pits and serous macular detachment]
TO: Fossettes colobomateuses et decollement sereux de la macula.
AU: Leys-A; Dralands-L; Nowe-G; Van-Mellaert-C
AD: Service d'Ophthalmologie, Clinique Saint-Rafael, Leuven, Belgique.
SO: Bull-Soc-Belge-Ophtalmol. 1991; 240: 133-43
ISSN: 0081-0746
PY: 1991
LA: FRENCH; NON-ENGLISH
CP: BELGIUM
AB: Several congenital anomalies of the optic disc are associated with serous detachment of the macula or retinal detachment. Treatment of this condition, and hallmarks of disc and systemic anomalies are discussed.
MESH: Coloboma-diagnosis; English-Abstract; Fluorescein-Angiography; Macula-Lutea; Retinal-Detachment-diagnosis; Syndrome-
MESH: *Coloboma-complications; *Optic-Disk-abnormalities; *Retinal-Detachment-etiology
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 92288692
UD: 9209
MEDLINE EXPRESS (R) 1991 67 of 74
TI: Aicardi syndrome. A clinicopathologic case report including electron microscopic observations.
AU: Font-RL; Marines-HM; Cartwright-J Jr; Bauserman-SC
AD: Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston 77030.
SO: Ophthalmology. 1991 Nov; 98(11): 1727-31
ISSN: 0161-6420
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum, severe mental retardation, and a characteristic chorioretinopathy with lacunar defects. The authors report on a 2-year-old girl with congenital hydrocephaly who was found unresponsive by the baby-sitter and died shortly thereafter. At autopsy, the histopathologic findings, which were confined to the brain and eyes, were found highly characteristic of AIC. The main abnormalities included agenesis of the corpus callosum, micropolygyria, bilateral papillomas of choroid plexi, bilateral microphthalmia, bilateral hypoplasia of the optic nerves, bilateral colobomas of the juxtapapillaris choroid and optic disc, bilateral total retinal detachment with dysplastic rosettes and chorioretinal lacunae with focal thinning, and atrophy of the retinal pigment epithelium and choroid. A detailed histopathologic study of the ocular findings and the brain anomalies is presented. The results of scanning electron microscopy of the chorioretinal lacunae demonstrated peculiar papillary proliferations of the retinal pigment epithelium in both eyes.
MESH: Child,-Preschool; Coloboma-pathology; Corpus-Callosum-pathology; Hydrocephalus-pathology; Optic-Nerve-abnormalities; Optic-Nerve-pathology; Pigment-Epithelium-of-Eye-ultrastructure; Syndrome-
MESH: *Choroid-Diseases-pathology; *Corpus-Callosum-abnormalities; *Retinal-Diseases-pathology; *Spasms,-Infantile-pathology
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 92195588
UD: 9206
MEDLINE EXPRESS (R) 1991 68 of 74
TI: The systemic and genetic significance of congenital optic disc anomalies.
AU: Jacobs-M; Taylor-D
AD: Hospital for Sick Children, London.
SO: Eye. 1991; 5 ( Pt 4): 470-5
ISSN: 0950-222X
PY: 1991
LA: ENGLISH
CP: ENGLAND
AB: Optic disc anomalies have great significance as a clue to associated systemic problems and as a marker of inherited disease. Optic nerve hypoplasia and colobomas of the optic disc are the main visually significant disorders; however, the Morning Glory disc anomaly and Aicardi's syndrome may also be associated with visual impairment.
MESH: Optic-Atrophy-complications; Optic-Nerve-abnormalities; Vision-Disorders-etiology
MESH: *Coloboma-genetics; *Optic-Atrophy-genetics; *Optic-Disk-abnormalities
TG: Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 92077223
UD: 9203
MEDLINE EXPRESS (R) 1991 69 of 74
TI: Optic nerve coloboma with cyst: a case report and review.
AU: Wiggins-RE; von-Noorden-GK; Boniuk-M
AD: Cullen Eye Institute, Baylor College of Medicine, Houston, Tex.
SO: J-Pediatr-Ophthalmol-Strabismus. 1991 Sep-Oct; 28(5): 274-7
ISSN: 0191-3913
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: A 7-month-old boy presented with strabismus and proptosis of the left eye. He was found to have bilateral optic nerve colobomas associated with cysts arising from the optic nerve sheath and in communication with the subarachnoid space. The evaluation and management of this entity are discussed.
MESH: Coloboma-radiography; Cysts-radiography; Exophthalmos-etiology; Infant-; Optic-Nerve-radiography; Optic-Nerve-Diseases-radiography; Strabismus-etiology; Tomography,-X-Ray-Computed
MESH: *Coloboma-complications; *Cysts-complications; *Optic-Nerve-abnormalities; *Optic-Nerve-Diseases-complications
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 92065374
UD: 9203
MEDLINE EXPRESS (R) 1991 70 of 74
TI: Ocular anomalies in anencephaly: a clinicopathological study of 11 globes.
AU: Bernardo-AI; Kirsch-LS; Brownstein-S
AD: Department of Ophthalmology, McGill University, Royal Victoria Hospital, Montreal.
SO: Can-J-Ophthalmol. 1991 Aug; 26(5): 257-63
ISSN: 0008-4182
PY: 1991
LA: ENGLISH
CP: CANADA
AB: Eleven globes of seven anencephalic infants with a gestational age of 36 to 41 weeks were examined pathologically. Atrophy of the ganglion cell and nerve fibre layers of the retina was found in all cases; optic nerve atrophy was noted in all 10 specimens in which the optic nerve was identified. In addition to findings attributable to immaturity, including persistent pupillary membrane (in 10 globes) and incomplete formation of the anterior chamber angle (in 5), we noted retinal dysplasia (in 4), colobomata (in 2) and proliferative retinopathy (in 1). Uncommon or previously undescribed abnormalities in association with anencephaly included cystic malformations of the meninges, sclera and globe (in one case each).
MESH: Anterior-Chamber-pathology; Atrophy-; Coloboma-pathology; Gestational-Age; Infant,-Newborn; Nerve-Fibers-pathology; Optic-Atrophy-pathology; Retinal-Diseases-pathology; Retinal-Ganglion-Cells-pathology
MESH: *Anencephaly-pathology; *Eye-Abnormalities-pathology
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 92034445
UD: 9202
MEDLINE EXPRESS (R) 1991 71 of 74
TI: Visual development of infants with severe ocular disorders.
AU: Fielder-AR; Fulton-AB; Mayer-DL
AD: Department of Ophthalmology, University of Birmingham, England.
SO: Ophthalmology. 1991 Aug; 98(8): 1306-9
ISSN: 0161-6420
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Among 11 patients who presented as blind in early infancy, with Leber's congenital amaurosis (5 patients), optic nerve hypoplasia (4 patients), or macular colobomata (2 patients), 8 developed visually guided behavior and measurable grating acuity by age 5 to 46 months. All children with measurable grating acuity demonstrated visually guided mobility. Grating acuity was predictive of later visual performance in 10 of 11 patients by age 12 to 16 months. The best grating acuity attained by 7 months was 1.3 to 3.0 cycles/degrees (20/460 to 20/200) and 0.13 cycles/degrees (20/4700) by month 8. Two patients with Leber's congenital amaurosis and one with optic nerve hypoplasia remained blind. No clinical features existed to differentiate these three patients from the eight whose visual status improved. Posterior visual pathway maturation may underlie the improvement.
MESH: Child-; Child,-Preschool; Infant-; Vision-Disorders-physiopathology; Visual-Acuity; Visual-Pathways
MESH: *Choroid-abnormalities; *Coloboma-; *Optic-Atrophy,-Hereditary-physiopathology; *Optic-Nerve-Diseases-physiopathology; *Vision-
TG: Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: EY05329EYNEI; EY07776EYNEI
AN: 92019621
UD: 9201
MEDLINE EXPRESS (R) 1991 72 of 74
TI: Spontaneous reattachment of a total retinal detachment in an infant with microphthalmos and an optic nerve coloboma [letter]
AU: Bochow-TW; Olk-RJ; Knupp-JA; Smith-ME
SO: Am-J-Ophthalmol. 1991 Sep 15; 112(3): 347-8
ISSN: 0002-9394
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
MESH: Fundus-Oculi; Infant,-Newborn
MESH: *Coloboma-; *Microphthalmos-; *Optic-Nerve-abnormalities; *Retinal-Detachment-physiopathology
TG: Human
PT: LETTER
AN: 91353716
UD: 9112
SB: AIM
MEDLINE EXPRESS (R) 1991 73 of 74
TI: Heterotopic ciliary epithelial differentiation in a patient with trisomy 13.
AU: Michon-JJ; Borges-JM; Tso-MO
AD: Georgiana Dvorak Theobald Ophthalmic Pathology Laboratory, Department of Ophthalmology, University of Illinois, College of Medicine, Chicago 60612.
SO: J-Pediatr-Ophthalmol-Strabismus. 1991 Jan-Feb; 28(1): 23-7
ISSN: 0191-3913
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: A premature infant was born with congenital anomalies suggestive of trisomy 13, confirmed by karyotype analysis. Pathologic examination of the eyes revealed typical features of trisomy 13, including microphthalmos, extensive colobomata, and retinal dysplasia. A heterotopic ciliary body had also developed in the posterior segment of the left eye in the region of the posterior coloboma. The development of a well-formed ciliary body in the posterior segment of the eye questions the hypothesis that physical contact between the lens primordium and neuroepithelium is required for ciliary body development.
MESH: Abnormalities,-Multiple-pathology; Choroid-abnormalities; Coloboma-pathology; Infant,-Newborn; Iris-abnormalities; Middle-Age; Optic-Nerve-abnormalities; Retina-abnormalities
MESH: *Choristoma-pathology; *Chromosomes,-Human,-Pair-13; *Ciliary-Body; *Eye-Neoplasms-pathology; *Pigment-Epithelium-of-Eye; *Retina-pathology; *Trisomy-
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: EY1903EYNEI; EY7038EYNEI; EY1792EYNEI
AN: 91210997
UD: 9108
MEDLINE EXPRESS (R) 1991 74 of 74
TI: Contractile optic disc coloboma [letter]
AU: Foster-JA; Lam-S
SO: Arch-Ophthalmol. 1991 Apr; 109(4): 472-3
ISSN: 0003-9950
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
MESH: Adult-; Fundus-Oculi; Visual-Acuity
MESH: *Coloboma-physiopathology; *Optic-Disk-abnormalities
TG: Case-Report; Female; Human
PT: LETTER
AN: 91189973
UD: 9107
SB: AIM
web contact: pietsch@indiana.edu
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