A novel mutation in the ABCR gene in four patient with autoomal receive targardt dieae

PURPOE: To identify additional mutation in the ABCR gene and decribe the clinical feature of four affected ibling with autoomal receive targardt dieae. METHOD: A cohort of eight ibling wa identified for tudy. Four of thee individual were diagnoed with targardt dieae baed on clinical evaluation and fluorecein angiography. Blood ample were obtained from even of eight ibling, including all thoe affected. All 50 exon of the ABCR gene were analyzed by ingle-tranded confirmation polymorphim analyi, followed by direct equencing of oberved variant, to identify mutation in the ABCR gene. REULT: We identified a previouly unreported kindred of eight ibling, four of whom had mutation in both of their ABCR allele. A previouly decribed G-to-C tranverion of nucleotide 2588, predicting a Gly863Ala amino acid ubtitution, and a novel G-to-A tranition of nucleotide 161, reulting in a Cy54Tyr ubtitution, were identified. Thee mutation co-egregated with the affected member of thi family. Three of the ibling demontrated clinical feature characteritic of claic targardt dieae, with bilateral region of macular atrophy aociated with yellow-white “flavimaculatu” fleck in the poterior pole at the level of the retinal pigment epithelium. The fourth affected ibling howed feature of early targardt dieae, with a beaten-bronze appearance to both macula, a well a perimacular fleck. In all four affected patient, fluorecein angiography howed a characteritic peripheral dark choroid. CONCLUION: We have identified both a previouly decribed and a novel mutation in the ABCR gene in four patient with autoomal receive targardt dieae. In-depth knowledge of the ABCR mutation pectrum in patient with targardt dieae will provide for more efficient creening and may provide potential therapie for targardt dieae and other retinal dieae.