Genotypic and phenotypic heterogeneity in familial microcoria.

Genotypic and phenotypic heterogeneity in familial microcoria. Research Abstract Details 

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Genotypic and phenotypic heterogeneity in familial microcoria. Abstract Text:

AIMS: To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. METHODS: Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field testing, refraction, biomicroscopy of anterior and posterior segments, and measurement of intraocular pressure were performed. DNA from the blood of affected and unaffected family members was investigated using standard markers to look for a possible gene defect in the chromosome 13q31-q32 region. RESULTS: All affected members of both families had pinpoint pupils which responded normally to light and accommodation. None of these subjects exhibited any other ocular abnormality. The iris of affected members showed stromal thinning and apparent absence of the iris dilator muscle in the first family, but was smooth and lacked all trabecular structure in the second family. The microcoria was present at birth in the first family but developed progressively at a later age in the second family. Haplotype analysis suggested the gene defect is not located in the chromosome 13q31-q32 region in the first family but the evidence was not conclusive in the second family. CONCLUSION: Although both families presented with similar pupil abnormalities inherited as an autosomal dominant trait, they show important phenotypic and genotypic differences suggesting that this is a heterogeneous condition. The possible mechanisms underlying the microcoria are discussed.

Genotypic and phenotypic heterogeneity in familial microcoria. Publishing Authors By Initials

For similar nervous system diseases: neurologic manifestations: pupil disorders research abstracts see: nervous system diseases: neurologic manifestations: pupil disorders research

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Genotypic and phenotypic heterogeneity in familial microcoria. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: The British journal of ophthalmology

VOLUME: 88

Page Numbers: 469-73

Journal Abbreviation: Br J Ophthalmol

ISSN: 0007-1161

DAY: 28

MONTH: Apr

YEAR: 2004

Genotypic and phenotypic heterogeneity in familial microcoria. Information

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LANGUAGE: eng

NlmUniqueID: 421041

Genotypic and phenotypic heterogeneity in familial microcoria. Keywords Mesh Terms:

KEYWORDS: Pupil Disorders

MESH TERMS: pathology

Chemical & Substance for Abstract: Genotypic and phenotypic heterogeneity in familial microcoria. Information

Substance Name: Genetic Markers

Registry Number: 0

Grant and Affiliation Information for Genotypic and phenotypic heterogeneity in familial microcoria.

AFFILIATION: Department of Neuro-ophthalmology (Box 142), National Hospital for Neurology & Neurosurgery, Queen Square, London WC1N 3BG, UK. fionbremner@doctors.org.uk

Country: England

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MEDLINETA: Br J Ophthalmol

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