RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

ABSTRACT:

Purpose

To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort.

Methods

Twenty-five patients from 22 pedigrees with RDH5-related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 gene or whole-exome sequencing was performed.

Results

Genetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A240GfsX19, p.R278X, p.R280H, and p.L310delinsEV) and a novel variant: c.259C>T (p.Q87X). The most frequently observed variant was p.L310delinsEV (65.2%, 30/46 alleles). Of 50 eyes examined, 44 eyes (88.0%) showed logMAR best-corrected visual acuity (BCVA) of 0.10 or better. In optical coherence tomogr

SUBMITTER: Katagiri S 

PROVIDER: S-EPMC7401827 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature