Sclerocornea, Autosomal Dominant

Description

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, the affected area is vascularized with regular arcades of superficial scleral vessels. In total sclerocornea, the entire cornea is opaque and vascularized (summary by Elliott et al., 1985).

Clinical Features

Elliott et al. (1985) reported a 5-generation family in which 9 members had peripheral sclerocornea. All affected members also had autosomal dominant cornea plana (121400), and some had glaucoma, corneal degeneration, posterior embryotoxon, cataract, microphthalmia, nystagmus, esotropia, iris heterochromia, and amblyopia.

Inheritance

Elliott et al. (1985) reported a 5-generation family in which 9 members had peripheral sclerocornea and cornea plana. The pedigree pattern was consistent with autosomal dominant inheritance. They identified 4 reported pedigrees (25 patients) in which peripheral sclerocornea and cornea plana were inherited in an autosomal dominant manner.

From a review of the literature, Elliott et al. (1985) suggested that the autosomal dominant form of sclerocornea is mild, whereas an autosomal recessive form (269400), which is also associated with cornea plana (217300), is severe.