Molecular characterization of Leber congenital amaurosis in Koreans.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy, and invariably leads to blindness. LCA is a genetically and clinically heterogenous disorder. Although more than nine genes have been found to be associated with LCA, they only account for about half of LCA cases. We performed a comprehensive mutational analysis on nine known genes in 20 unrelated patients to investigate the genetic cause of LCA in Koreans.

Methods

All exons and flanking regions of the nine genes (AIPL1, CRB1, CRX, GUCY2D, RDH12, RPE65, RPGRIP1, LRAT, and TULP1) were analyzed by direct sequencing. We also screened our patients for the common CEP290: c.2991+1655A>G mutation found in Caucasian.

Results

Six different mutations including four novel ones were i

SUBMITTER: Seong MW 

PROVIDER: S-EPMC2493025 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature