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At a glance

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

Synonym

Autosomal Dominant Keratitis.

Incidence

The exact frequency for this medical condition is unknown.

Genetic inheritance

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

Pathophysiology

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

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

Clinical aspects

It is a hereditary childhood corneal clouding. The presence of recurrent episodes of “keratoendotheliitis” is associated with mild iritis and stromal edema. Propensity for early recurrence after keratoplasty.

Anesthetic considerations

No known specific consideration with this condition.

Other conditions to be considered

  • Keratitis Ichthyosis Deafness (KID) Syndrome: 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 eye or both.

  • PAX6 Mutation Syndromes: This is a group of medical conditions presenting hereditary keratitises. It includes:

    • Aniridia: Absence of the iris, usually involving both eyes. It can be congenital or caused by a penetrant injury. It is characterized by a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes.

    • Peter’s Anomaly: Rare congenital form of anterior segment dysgenesis which is characterized by an abnormal cleavage of the anterior chamber. The clinical features include leukoma due to defects in the posterior stroma, Descemet’s membrane, and endothelium. The Descemet’s membrane lies between the corneal stroma and the endothelial layer of the cornea.

    • Congenital Cataracts Syndrome: Defined by a broad spectrum of severity. Lens opacities do not progress and are visually insignificant whereas others can produce profound visual impairment. They can be unilateral or bilateral.

    • Isolated Foveal Hypoplasia Syndrome: Described in association with other anatomical eye disorders such as aniridia, albinism, microphthalmus, and achromatopsia.

References

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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]
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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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