Macular dytrophy in a 9-year-old boy with fundu albipunctatu

PURPOE: To report a 9-year-old boy with fundu albipunctatu and macular dytrophy. DEIGN: Obervational cae report. METHOD: A complete ophthalmic examination wa performed. The 11-ci retinol dehydrogenae gene (RDH5) wa examined by direct genomic equencing. REULT: The fundi of the 9-year-old boy howed numerou yellow-white punctata a well a foveal atrophic leion in both eye. Hi corrected viual acuity wa RE: 0.5 and LE: 0.3. cotopic full-field electroretinogram were not preent after 20 minute of dark-adaptation but were normal after 3 hour of dark-adaptation. Full-field cone and 30-Hz flicker electroretinogram were normal; however, focal macular cone electroretinogram were ignificantly reduced. A compound heterozygou mutation of Tyr281Hi and Leu310GluVal in RDH5 wa detected. CONCLUION: We ugget that the macular dytrophy i caued by the RDH5 mutation a a phenotype variation in fundu albipunctatu