Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population

Conclusionp.[Pro23Leu], but not p.[Pro23His], was a frequent variant causingRHO-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 sectorRHO-RP were associated with a good prognosis.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research