A novel RDH5 gene mutation in a patient with fundu albipunctatu preenting with macular atrophy and fading white dot

Purpoe To report a novel homozygou RDH5 gene mutation in a 76-year-old fundu albipunctatu who developed macular atrophy with the diappearance of white dot. Deign Obervational cae report. Method Direct genomic equencing for RDH5 mutation wa done after complete ophthalmic examination. Reult Fundocopy revealed only macular atrophy with notable abence of white dot. A homozygou G490T (Val164Phe) miene RDH5 gene mutation wa detected. Concluion Thi i the firt reported long-term cae of fundu albipunctatu demontrating macular atrophy with fading of the typical white dot. Gene tudie may be the only method for ditinguihing fundu albipunctatu from other type of macular atrophy in the elderly.