Corneal Dystrophy, Lattice Type Iiia

A number sign (#) is used with this entry because of evidence that lattice type IIIA corneal dystrophy (CDL3A) is caused by heterozygous mutation in the TGFBI gene (601692) on chromosome 5q31.

The TGFB1 gene is mutant in several other forms of corneal dystrophy, including Reis-Bucklers corneal dystrophy (CDRB; 608470), Thiel-Behnke corneal dystrophy (CDTB; 602082), lattice type I corneal dystrophy (CDL1; 122200), Avellino corneal dystrophy (ACD; 607541), and Groenouw type I corneal dystrophy (CDGG1; 121900).

Clinical Features

Yamamoto et al. (1998) used the designation lattice corneal dystrophy type IIIA for a disorder that resembled type III (204870) clinically but differed in that its age of onset was late (70 to 90 years) and it had an autosomal dominant inheritance pattern; see 601692.0005.

Molecular Genetics

Yamamoto et al. (1998) identified a mutation in the TGFBI gene (601692.0005) that caused type IIIA lattice corneal dystrophy.

Stix et al. (2005) identified a missense mutation in the TGFBI gene (601692.0010) in a family with type IIIA lattice corneal dystrophy and corneal amyloid deposits that contained proteolytic fragments of keratoepithelin.