A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.

Abstract

To report a novel homozygous RDH5 gene mutation in a 76-year-old fundus albipunctatus who developed macular atrophy with the disappearance of white dots. Observational case report. Direct genomic sequencing for RDH5 mutations was done after complete ophthalmic examination. Fundoscopy revealed only macular atrophy with notable absence of white dots. A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected. This is the first reported long-term case of fundus albipunctatus demonstrating macular atrophy with fading of the typical white dots. Gene studies may be the only method for distinguishing fundus albipunctatus from other types of macular atrophy in the elderly.