Retinal dystrophy with or without macular staphyloma (RDMS) is an autosomal recessive early-onset retinal dystrophy. It has been reported that mutations in CFAP410 cause this disease. CFAP410 encodes a ciliary protein localized in the photoreceptor primary cilium, and is consequently associated with ciliary maintenance, formation, and DNA repair.
Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ
タイトル
C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
