MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

ABSTRACT: Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and clinical heterogeneity, the separate groups share many common genetic causes, in particular relating to pathways controlling retinal and retinal pigment epithelial maintenance. To understand these shared pathways and delineate the overlap between these groups, we investigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-generation family. By linkage analysis and exome sequencing, we identified a previously undescribed heterozygous mutati

SUBMITTER: Conte I 

PROVIDER: S-EPMC4485104 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature