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

ConclusionOur results indicated that this novelCLN3 missense variant is associated with teenage ‐onset isolated retinal dystrophy. This is the first report of any patient withCLN3‐associated disorder in the Japanese population. Although fingerprint profiles have never been reported inCLN3‐associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types.

Source: Molecular Genetics & Genomic Medicine - May 21, 2020 Category: Genetics & Stem Cells Authors: Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano Tags: CLINICAL REPORT Source Type: research