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Inherited inflammatory corneal disease. Corneal clouding of childhood, characterized by recurrent stromal keratitis and vascularization.

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Autosomal Dominant Keratitis.

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Autosomal dominant. Gene map locus is 11p13 (PAX6 gene). Variable penetrance and expressivity.

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Characterized by the presence of a circumferential band of opacification and vascularization at the level of the Bowman membrane adjacent to the corneal limbus.

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Histopathologic studies confirm the inflammatory nature and anterior stromal localization of the keratitis.

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Hereditary childhood corneal clouding. Recurrent episodes of “keratoendothelitis” associated with mild iritis and stromal edema. Propensity for early recurrence after keratoplasty.

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No known specific consideration with this condition.

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Keratitis Ichthyosis Deafness (KID) Syndrome: A form of ectodermal dysplasia characterized by inflammation of the corneae (keratitis), skin scales, and deafness.

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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.

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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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