Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel Mutation.

Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve hypoplasia and the presence of glaucoma, cataracts, and corneal opacification. Here, we describe a 4-generation family in which 7 individuals across 2 generations carry a novel disease-causing frameshift mutation (NM_000280.