Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

ABSTRACT:

Purpose

To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy.

Methods

Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct sequencing.

Results

WES identified compound heterozygous RPE65 variants in both patients. Variants in patient 1 included c.1543C>T (p.R515W) and c.683A>C (p.Q228P), while patient 2 exhibited c.1028T>A (p.L343*) and c.683A>C (p.Q228P). Although variants p.R515W and p.L343* have been previously reported as pathogenic, variant p.Q228P was reported as uncertain si

SUBMITTER: Katagiri S 

PROVIDER: S-EPMC5893010 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature