Reis-Bucklers corneal dystrophy;
Corneal dystrophy of Bowman type I;
Granular corneal dystrophy type III

Reis-Bucklers corneal dystrophy (RBCD) is a progressive autosomal dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and scarring cause marked visual loss and recurrent corneal erosions lead to significant pain. In RBCD, Bowman's membrane is disrupted or absent and instead is replaced by a fibrocellular tissue with deposition of rodlike bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene.

Nervous system disease

TGFBI [HSA:7045] [KO:K19519]

Thiel-Behnke dystrophies (TBCD) is described in [DS:H00952]

PMID:19236704

PMID:18214787

PMID:16900028