More than 150 disease-causing mutations have been attributed to PRPH2, resulting in a spectrum of autosomal recessive and dominant retinal degenerations including central areolar choroidal dystrophy, pattern dystrophy, adult-onset vitelliform macular dystrophy, Leber congenital amaurosis (LCA), and retinitis pigmentosa (Farrar et al. 1991; Kajiwara et al. 1994; Wang et al. 2013). The gene discussed is PRPH2; the disease is central areolar choroidal dystrophy.