Retinal dystrophy and iris coloboma with or without congenital cataract (RDICC) is an autosomal dominant condition of retinal dystrophy and bilateral coloboma, present in varying degrees. A mutation in microRNA-204 (miR-204) has been identified in all affected individuals. It has been demonstrated that miR-204 is necessary for normal photoreceptor function.
Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC
タイトル
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.
