Condition: Reis-Bucklers' corneal dystrophy


rs121909211 in TGFBI gene and Reis-Bucklers' corneal dystrophy PMID 9780098 1998 Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.

PMID 15623763 2005 In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.

PMID 10660331 1998 A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online.