Genetic characteristics of retinitis pigmentosa in 1,204 Japanese patients

Retinitis pigmentosa (RP) is the most common form of hereditary retinal degenerative disease worldwide. We performed large-scale high-coverage targeted resequencing of 83 causative genes of RP. The analyzed samples accounted for more than 4 % of all RP patients in Japan, leading us to reveal comprehensive characteristics of causative genes and variants in the Japanese RP. Our results indicated that the major genetic causes of Japanese RP were composed of variants specific to the East Asian population, and suggested that genetic differences in the proportion of causative genes across populations could be accounted by population-specific variants. (Dr. Yoshito Koyanagi, https://jmg.bmj.com/content/early/2019/06/17/jmedgenet-2018-105691)

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