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At a glance

Inherited condition characterized by recurrent stromal keratitis and vascularization. The inherited form of keratitis usually begins in the first year of life. Symptoms include sensitivity to light, excessive tearing, pain, and redness. Excessive mucous discharge is often noted. Cloudiness of the cornea, presence of blood vessels and small hemorrhages, as well as asymmetry between both eyes confirms the diagnosis. Amblyopia is often seen in children.

Incidence

It is reported that hereditary keratitis affects less than 200,000 people in the US population. In the European population, it has been suggested that it currently affects 1 person per 2000.

Genetic inheritance

Autosomal dominant. It is probably caused by a mutation in the PAX6 gene, which is also involved in the development of aniridia and Peter’s anomaly (anterior segment malformations of the eye). Gene map locus is 11p13.

Pathophysiology

Characterized by the presence of a circumferential band of opacification and vascularization at the level of Bowman membrane adjacent to the limbus. Histopathologic studies confirm the inflammatory nature and the anterior stomal localization of the keratitis.

Clinical aspects

Hereditary corneal clouding present in the childhood period. Recurrent episodes of “keratoendothelitis” associated with mild iritis and stromal edema. The propensity for early recurrence after keratoplasty is reported. The Judicious use of tear substitutes and expedited tarsorrhaphy is crucial to restoration of useful vision in these children.

Precautions before anesthesia

No specific precautions associated with this medical condition. Only the presence of underlying medical problems affects preparation for anesthesia.

Anesthetic considerations

Although there are no specific anesthesia considerations other than a contraindication to use local corneal anesthetic agents.

Pharmacological implications

No known pharmacological implications with this syndrome. However, some patients may be on chronic corticosteroid treatment, which indicates administration of intravenous steroids preoperatively might be necessary according to the surgical stress.

Other condition to be considered

Other hereditary syndromes with keratitis, especially the following:

  • Keratitis Ichthyosis Deafness Syndrome: Polymalformative syndrome characterized by inflammation of the corneas (keratitis), skin scales, and deafness; both autosomal dominant and autosomal recessive forms have been reported.

References

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Pearce  WG, Mielke  BW, Hassard  DT, Climenhaga  HW, Climenhaga  DB, Hodges  EJ: Autosomal dominant keratitis: A possible aniridia variant. Can J Ophthalmol 30:131, 1995.  [PubMed: 7627897]
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Prosser  J, van Heyningen  V: PAX6 mutations reviewed. Hum Mutat 11:93, 1998.  [PubMed: 9482572]

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