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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 57:539, 1995.  [PubMed: 7668281]
Singh S, Chao LY, Mishra R, et al: Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet 10:911, 2001.  [PubMed: 11309364]

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