Corneal dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to a buildup of cloudy material. Most cases of corneal dystrophy are of three types, classified by their inheritance pattern: dominant granular dystrophies, recessive macular dystrophy and dominant lattice-like dystrophies. Corneal dystrophies are associated with corneal epithelium, Bowman’s layer, corneal stroma and corneal endothelium. Corneal dystrophies may be present at birth, but more frequently occur during adolescence.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling