Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified. Sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium are the hallmarks of EBMD. Most patients are asymptomatic before the age of 30 years, but 10% of them may have recurrent idiopathic erosions and a loss of vision due to surface irregularity.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball anterior segment
Disorders of the cornea
9A70 Hereditary corneal dystrophies
H01221 Epithelial basement membrane corneal dystrophy
