Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Inherited inflammatory corneal disease. Corneal clouding of childhood, characterized by recurrent stromal keratitis and vascularization. + Synonym Download Section PDF Listen ++ Autosomal Dominant Keratitis. + Genetic Inheritance Download Section PDF Listen ++ Autosomal dominant. Gene map locus is 11p13 (PAX6 gene). Variable penetrance and expressivity. + Pathophysiology Download Section PDF Listen ++ Characterized by the presence of a circumferential band of opacification and vascularization at the level of the Bowman membrane adjacent to the corneal limbus. + Diagnosis Download Section PDF Listen ++ Histopathologic studies confirm the inflammatory nature and anterior stromal localization of the keratitis. + Clinical Aspects Download Section PDF Listen ++ Hereditary childhood corneal clouding. Recurrent episodes of “keratoendothelitis” associated with mild iritis and stromal edema. Propensity for early recurrence after keratoplasty. + Anesthetic Considerations Download Section PDF Listen ++ No known specific consideration with this condition. + Other Conditions to Be Considered Download Section PDF Listen ++ 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. + References Download Section PDF Listen ++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]