Hereditary sclerocornea
J. H. Elliott, S. S. Feman, D. M. O'Day and M. Garber
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.
