Mutation discovered in a feline model of human congenital retinal blinding disease.

ABSTRACT:

Purpose

To elucidate the gene defect in a pedigree of cats segregating for autosomal dominant rod-cone dysplasia (Rdy), a retinopathy characterized extensively from a clinical perspective. Disease expression in Rdy cats is comparable to that in young patients with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa [RP]).

Methods

A pedigree segregating for Rdy was generated and phenotyped by clinical ophthalmic examination methods including ophthalmoscopy and full-field flash electroretinography. Short tandem repeat loci tightly linked to candidate genes for autosomal dominant retinitis pigmentosa in humans were genotyped in the pedigree.

Results

Significant linkage was established to the candidate gene CRX (LOD = 5.56, = 0) on cat chromosom

SUBMITTER: Menotti-Raymond M 

PROVIDER: S-EPMC2891453 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature