| Epithelial basement membrane dystrophy | |
|---|---|
| Classification and external resources | |
| OMIM | 121820 |
| eMedicine | article/1193945 |
Epithelial basement membrane dystrophy (EBMD) is a disorder of the eye, sometimes included in the group of corneal dystrophies. It diverges from the formal definition of corneal dystrophy in being in most cases non-familial. It also has a fluctuating course, while for a typical corneal dystrophy the course is progressive.
In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,[1] but according to the International Committee for Classification of Corneal Diseases (IC3D)[2] the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies. In view of this, the more accurate designation of the disease is possibly not dystrophy but corneal degeneration.[3]
The main pathological feature of the disease is thickened, multilaminar and disfigured basement membrane of corneal epithelium. The change in the structure affects the epithelium, some cells of which may become entrapped in the rugged membrane and fail to migrate to the surface where they should undergo desquamation.