Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
Kei MizobuchiTakaaki HayashiNoriko OishiDaiki KubotaShuhei KameyaKoichiro HigasaTakuma FutamiHiroyuki KondoKatsuhiro HosonoKentaro KurataYoshihiro HottaKazutoshi YoshitakeTakeshi IwataTomokazu MatsuuraTadashi NakanoPublished in: Journal of clinical medicine (2021)
Our results suggest a genotype-phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.