Inherited condition characterized by recurrent stromal
keratitis and vascularization.
Autosomal dominant. Probably caused by a
mutation in the PAX6 gene, which is also involved in the development of
aniridia and Peters anomaly (anterior segment malformations of the eye).
Gene map locus is 11p13.
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.
Hereditary childhood corneal clouding. Recurrent
episodes of “keratoendothelitis” associated with mild iritis and stromal
edema. Propensity for early recurrence after keratoplasty.
No specific precautions associated
with this medical condition. Only the presence of underlying medical
problems affects preparation for anesthesia.
No specific anesthesia considerations.
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 hereditary syndromes
with keratitis, especially the following:
Keratitis Ichthyosis Deafness (KID) Syndrome: Polymalformative syndrome
characterized by inflammation of the corneas (keratitis), skin scales, and
deafness; both autosomal dominant and autosomal recessive forms have been
Pearce WG, Mielke BW, et al: Autosomal dominant keratitis: A possible
aniridia variant. Can J Ophthalmol
Prosser J, van Heyningen V: PAX6 mutations reviewed. Hum Mutat