Recently, polymorphisms in the seed region of miR-184 have been identified in familial severe KC and stromal thinning (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning [EDICT]) syndrome.
Family-based studies have recently led to the identification of the MIR184 gene for keratoconus with cataract and to the DOCK9 gene in a family with isolated keratoconus.
We found that a mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation.