Affected asymptomatic relatives in congenital hereditary endothelial dystrophy

Document Type

Article

Publication Date

1-1-1973

Abstract

Thorough examination of apparently normal relatives of patients with congenital hereditary endothelial dystrophy (CHED) revealed many minimally affected individuals in two kindreds. These asymptomatic individuals had normal visual acuities and corneal thicknesses. However, slit-lamp biomicroscopy revealed characteristic changes at the level of Descemet's membrane, including clear vacuole-like lesions with surrounding gray-white haze, irregular endothelial mosaic, and occasionally beaded white lines extending across the cornea. Of special note are monozygotic twins in one kindred: one twin had CHED with marked edema since childhood, and the other twin was minimally affected but had three children with marked CHED. The best explanation for the inheritance pattern noted in these two kindreds is an autosomal dominant pattern with variable expressivity. Its recognition is of importance in giving genetic counseling to these asymptomatic, affected relatives who might have children with marked CHED. © 1973.

Publication Source (Journal or Book title)

American Journal of Ophthalmology

First Page

967

Last Page

971

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