Hereditary sclerocornea

Abstract

Sclerocornea is a primary anomaly in which scleralization of a peripheral part of the cornea, or the entire corneal tissue, occurs. In the peripheral type of sclerocornea, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized. To our knowledge, 97 cases of all types of sclerocornea have been reported in the world literature, either as a primary anomaly or in association with cornea plana. Peripheral sclerocornea in association with cornea plana was found in nine members of one family, in four of five generations studied. To our knowledge, this is the largest pedigree of hereditary peripheral sclerocornea identified. Our pedigree suggests the autosomal-dominant transmission of this entity but doesn't rule out phenocopies or other modes of inheritance in other cases of sclerocornea. Chromosomal analyses of representative family members revealed normal karyotypes.