Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

ABSTRACT:

Background

Biallelic CLN3 gene variants have been found in either juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02-kb deletion variant homozygously. Clinical characteristics of patients with biallelic CLN3 missense variants are not well elucidated.

Methods

We described a 26-year-old Japanese male patient with isolated retinal dystrophy. Whole-exome sequencing (WES) and transmission electron microscopy (TEM) were performed.

Results

Whole-exome sequencing identified a novel homozygous CLN3 missense variant [c.482C>T; p.(Ser161Leu)]. Ophthalmoscopy revealed retinal degeneration and macular atrophy, and later attenuated retinal vessels. Severely reduced responses were obser

SUBMITTER: Mizobuchi K 

PROVIDER: S-EPMC7434607 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature