Epithelial Recurrent Erosion Dystrophy

The first description dates from 1928 by the Swiss ophthalmologist Adolphe Franceschetti (1896-1968).

Epithelial recurrent erosive dystrophy (ERED) is a very rare congenital form of superficial corneal dystrophy with painful, recurrent erosions of the corneal epithelium manifesting as early as infancy.

The disease is caused by mutations in the COL17A1 gene on chromosome 10 gene locus q25.1.

Childhood

Small gray anterior stromal patches associated with larger focal gray-white disc-shaped, circular, or ring-shaped lesions with central clarity in Bowman's layer and the immediately underlying anterior stroma 0.2 to 1.5 mm in diameter appear clinically diagnostic of ERED.

The other forms of granular corneal dystrophy should be distinguished.

The disease manifests itself in the first decade of life. Later, the symptoms gradually decrease to stop in the third or fourth decade of life.

Bi-allelic COL17A1 mutations have previously been associated with epidermolysis bullosa junctionalis, with recurrent corneal erosions reported in some cases (Jonsson F et al. 2015).

1. Jonsson F et al (2015) Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). Hum Mutat 36:463-473.
2. Vahedi F et al. (2018) Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. Cornea 37:909-911.