A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. - Bowne SJ; Humphries MM; Sullivan LS; Kenna PF; Tam LC; Kiang AS; Campbell M; Weinstock GM; Koboldt DC; Ding L; Fulton RS; Sodergren EJ; et al. (European journal of human genetics : EJHG, 2011)