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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]