Macular dytrophy in a Japanee family with fundu albipunctatu

Purpoe To report a Japanee family with fundu albipunctatu and macular dytrophy aociated with a mutation in the 11-ci retinol dehydrogenae (RDH5) gene. Deign Obervational cae report. Method Ophthalmic examination and DNA analyi were performed. Reult The fundi of a 56-year-old man and hi 51-year-old iter howed numerou yellow-white punctata. He alo had bull’-eye maculopathy and prepappillary arterial loop, wherea he did not, and hi bet-corrected viual acuity wa impaired, wherea her wa normal. Their kinetic viual field did, however, how central or paracentral cotoma, and both had tritanomalou color viion. Their cotopic electroretinogram were typical of fundu albipunctatu, and photopic electroretinogram were ignificantly reduced. A homozygou Gly107Arg mutation in the RDH5 gene wa detected in both ibling. Concluion We ugget that the macular dytrophy i caued by the RDH5 gene mutation a a phenotype variation in fundu albipunctatu