Retinal dystrophy and iris coloboma with congenital cataract

Definition:

Retinal dystrophy and iris coloboma with 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.

References:

[1]. Ivan Conte, et al. MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45. [Content Brief]

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