Contributor: Gordon K. Klintworth
Autosomal dominant keratitis (hereditary keratitis, OMIM #148190) is an inherited disorder of the cornea with an autosomal dominant mode of inheritance. It is caused by a mutation in the PAX6 gene. The disorder is characterized by corneal clouding, recurrent stromal keratitis [keratitis - stromal] and corneal vascularization [neovascularization - cornea] especially at the level of Bowman layer and the superficial stroma . Expressivity is variable and nonpenetrance occurs in some individuals. Some individuals with type of keratitis only manifest transient episodes of ocular inflammation during childhood. In at least one large family foveal hypoplasia [hypoplasia - fovea] was present in all affected individuals. The skin and mucous membranes are not involved. A penetrating keratoplasty is sometimes indicated and when it is an early recurrence is common.