A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

Abstract

Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies. This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene.

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings

“…Formerly, Boutboul at al. [47] found mutations in TGFBI in a susbset of patients with epithelial basement membrane corneal dystrophies. Patients with epithelial basement membrane corneal dystrophies are mostly good candidates for PTK with satisfactory results.…”

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

“…Mutations in TGFBI have now been demonstrated in a wide range of corneal dystrophies including GCD, Avellino, lattice—classic and atypical, Bowman layer types 1 and 2 and epithelial basement membrane 2 5 11 15. Sometimes a genetic diagnosis challenges the apparent clinical diagnosis 1.…”

The Genetics and Pathophysiology of IC3D Category 1 Corneal Dystrophies

“…37,40 Transforming growth factor beta-induced has also been implicated in a sixth corneal dystrophy-epithelial basement membrane dystrophy (EBMD, OMIM#121820)-with autosomal dominant mutations described in 2 families. 41 Epithelial basement membrane dystrophy presents as additional sheets of basement membrane extending abnormally into the corneal epithelium, intraepithelial pseudocysts composed of migratory epithelial cells, and may result in corneal erosions. However, the majority of EBMD cases seem to arise as a degenerative disease or as a consequence of trauma.…”