CNGA3 mutations in two United Arab Emirates families with achromatopsia.

ABSTRACT:

Purpose

ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease.

Methods

Clinical examinations were performed in seven patients from three nuclear families. Molecular genetic testing for common CNGA3 and CNGB3 mutations was undertaken using standard protocols.

Results

All patients were extremely light sensitive and had reduced visual acuity and no color perception. Fundus examinations did not show any visible abnormalities. After further pedigree analysis, two of th

SUBMITTER: Ahuja Y 

PROVIDER: S-EPMC2464613 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature