Genes · 2021
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Oishi Akio, Fujinami Kaoru, Mawatari Go, Naoi Nobuhisa, Ikeda Yasuhiro, Ueno Shinji, Kuniyoshi Kazuki, Hayashi Takaaki, Kondo Hiroyuki, Mizota Atsushi, Shinoda Kei, Kusuhara Sentaro, Nakamura Makoto, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushige
Аннотация
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.