EYS and Leber congenital amaurosis: We found 2 novel truncating EYS gene mutations that were surprisingly related to 16% of Japanese arRP patients, but were not detected in Japanese patients with either adRP or Leber's congenital amaurosis (LCA [MIM204000], the earliest onset and most severe form of hereditary retinal dystrophy with several clinical features overlapping with those of RP).