| Literature DB >> 34828423 |
Akio Oishi1,2, Kaoru Fujinami3,4,5, Go Mawatari6, Nobuhisa Naoi6, Yasuhiro Ikeda6, Shinji Ueno7, Kazuki Kuniyoshi8, Takaaki Hayashi9, Hiroyuki Kondo10, Atsushi Mizota11, Kei Shinoda11,12, Sentaro Kusuhara13, Makoto Nakamura13, Takeshi Iwata14, Akitaka Tsujikawa1, Kazushige Tsunoda15.
Abstract
Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40's; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.Entities:
Keywords: cone-rod dystrophy; macular dystrophy; peripherin 2 (PRPH2); retinal degeneration slow (RDS); retinitis pigmentosa
Mesh：
Substances：
Year: 2021 PMID： 34828423 PMCID： PMC8624169 DOI： 10.3390/genes12111817
Source DB: PubMed Journal: Genes (Basel) ISSN： 2073-4425 Impact factor: 4.096