Corneal dystrophies (ORPHA:34533) are a group of progressive and heterogeneous opacifying disorders of genetic cause, generally bilateral, many of which are associated with decreased vision and ocular discomfort. They can appear both in isolation and as part of complex syndromes.
Clinically, corneal dystrophies can be divided into 3 groups based on the anatomical location of the abnormalities. Some mainly affect the corneal epithelium, its basement membrane (Bowman’s layer), and the superficial corneal stroma (superficial corneal dystrophies). Others predominantly affect the stroma of the cornea (stromal corneal dystrophies) or Descemet’s membrane and the corneal endothelium (posterior corneal dystrophies).
