Abstract
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.
Highlights
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement
Infrared reflectance (IR) images showed the dots were in areas corresponding to fundus photograph and fundus autofluorescence (FAF) images are normal
Late phase images of indocyanine green angiography (ICGA) of the II-6 in family 3 showed extensive cord-like hypofluorescence with preservation of the macular area and ring-like hyperfluorescence in the macular area
Summary
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. This disease was first described by Lauber in 1910 who distinguished it from an ophthalmoscopically similar disorder called retinitis punctata albescens[1]. Mutations in three key retinoid cycle enzyme: LRAT (lecithin retinol acyltransferase), RDHs (retinol dehydrogenases) and RPE65 and RLBP1 (retinaldehyde binding protein 1) genes were associated with the appearance of white-yellow dots on fundus examination[11,12,13,14,15]
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