[5] According to research published in 2006, in some families autosomal dominant inheritance and point mutations in the transforming growth factor, beta-induced (TGFBI) gene encoding keratoepithelin have been identified,[6] but according to the International Committee for Classification of Corneal Diseases (IC3D)[7] the available data still does not merit a confident inclusion of EBMD in the group of corneal dystrophies.

[8] 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.

For patients with granular corneal dystrophy type 2 (GCD2) who have the TGFBI p.(R124H) mutation, complications have been observed following LASIK surgery.

[9] Phototherapeutic keratectomy (PTK) done by an ophthalmologist can restore and preserve useful visual function for a significant period of time in patients with anterior corneal dystrophies including EBMD.