Abstract
Our objective is to evaluate the literature regarding selected genetic diseases of
the cornea, including megalocornea, keratoglobus, keratoconus, cystinosis, the mucopolysaccharidoses,
sclerocornea, Peters' anomaly, familial dysautonomia, and various corneal dystrophies.
The transparency of the cornea is a consequence of uniformity in both size and spacing
of the collagen lamellae. The cornea's clarity depends on a delicate biochemical and
structural balance; consequently, genetic disorders that disrupt either its metabolic
or anatomic function can cause opacity and vision loss. Many childhood corneal diseases
have a genetic etiology and are associated with known syndromes. Each disorder has
unique associated set of possible complications. Prognosis often depends on the extent
of opacity and disorganization of the anterior segment. Corneal transplantation has
been performed for these disorders with variable success.
Keywords
Megalocornea - keratoglobus - keratoconus - cystinosis - mucopolysaccharidosis - sclerocornea
- Peters' anomaly - familial dysautonomia - corneal dystrophy
