A. Siglervillanueva et al., AUTOSOMAL-DOMINANT CORNEA PLANA - CLINICAL FINDINGS IN A CUBAN FAMILYAND A REVIEW OF THE LITERATURE, Ophthalmic genetics, 18(2), 1997, pp. 55-62
Cornea plana may occur in connection with malformations of the eye or
of other parts of the body. As an isolated ocular anomaly it may be in
herited in an autosomal recessive or in an autosomal dominant fashion.
We have previously mapped genes for both forms of the disease to 12q2
1. We studied 36 members of three generations of a Black Cuban family
with autosomal dominant cornea plana. Three affected males and 11 affe
cted females were examined. Corneal refraction varied between 37.50 an
d 42.75 diopters. Horizontal corneal diameter ranged from 8.75 to 11.2
5 mm. The cornea was clear and the limbal zone only occasionally widen
ed. A marked arcus senilis was present in six patients aged 30 to 58 y
ears, but in none of their healthy relatives. The anterior chamber was
shallow in those affected, varying in depth from 1.68 to 2.38 mm. One
woman was blind from closed-angle glaucoma. The axial length was with
in normal limits in all patients.