Inherited inflammatory corneal
disease. Corneal clouding of childhood, characterized by recurrent stromal
keratitis and vascularization.
Autosomal Dominant Keratitis.
Autosomal dominant. Gene map locus is 11p13
(PAX6 gene). Variable penetrance and expressivity.
Characterized by the presence of a circumferential
band of opacification and vascularization at the level of the Bowman membrane
adjacent to the corneal limbus.
Histopathologic studies confirm the inflammatory nature
and anterior stromal localization of the keratitis.
Hereditary childhood corneal clouding. Recurrent
episodes of “keratoendothelitis” associated with mild iritis and stromal
edema. Propensity for early recurrence after keratoplasty.
No known specific consideration with this condition.
Keratitis Ichthyosis Deafness (KID) Syndrome: A form of ectodermal
dysplasia characterized by inflammation of the corneae (keratitis), skin scales, and deafness.
Keratoendotheliitis Fugax Hereditaria: Condition distinct from
hereditary keratitis in that it is characterized by self-limiting
intermittent attacks of keratoendotheliitis affecting one or the other eye.
Other PAX6 Mutation Syndromes: Include Aniridia, Peters
anomaly, congenital cataracts, and isolated foveal hypoplasia.
Mirzayans F, Pearce WG, MacDonald IM, Walter MA: Mutation of the PAX6
gene in patients with autosomal dominant keratitis. Am J Hum Genet
Singh S, Chao LY, Mishra R, et al: Missense mutation at the C-terminus of
PAX6 negatively modulates homeodomain function. Hum Mol Genet