Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

ABSTRACT:

Background

Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait.

Methods

Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. Eight members of this family underwent clinical examination to determine the nature of the microphthalmia phenotype associated with this locus.

Results

All affected individuals in this family suffered from bilateral microphthalmia in association with anterior segment abnormalities, and the best visual acuity achieved was "

SUBMITTER: Bessant DA 

PROVIDER: S-EPMC1723146 | biostudies-literature | 1999 Aug

REPOSITORIES: biostudies-literature