Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
Saki TsutsuiYusuke MurakamiKohta FujiwaraYoshito KoyanagiMasato AkiyamaAtsunobu TakedaYasuhiro IkedaKoh-Hei SonodaPublished in: Japanese journal of ophthalmology (2023)
p.[Pro23Leu], but not p.[Pro23His], was a frequent variant causing RHO-RP in the Kyushu region of Japan. As reported in previous studies, patients with the p.[Pro347Leu] variant showed a more severe phenotype, and variants causing sector RHO-RP were associated with a good prognosis.