Alternative titles; symbols
ORPHA: 98964;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 5q31.1 | Corneal dystrophy, lattice type IIIA | 608471 | Autosomal dominant | 3 | TGFBI | 601692 |
A number sign (#) is used with this entry because of evidence that lattice corneal dystrophy type IIIA (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).
Lattice corneal dystrophy type IIIA (CDL3A) is an autosomal dominant condition characterized by amyloid accumulation in the corneal stroma. It is clinically manifest as the presence of thick ropy lattice lines in the cornea. Recurrent erosions are common. Onset occurs between 70 and 90 years of age (Yamamoto et al., 1998).
Yamamoto et al. (1998) stated that only 2 families with type IIIA lattice corneal dystrophy had been reported (Stock et al., 1991). Yamamoto et al. (1998) reported 3 Japanese families with CDL3A as well as 4 patients with sporadic CDL3A. All affected individuals had late-developing thick, ropy lattice lines in the corneal stroma. No systemic abnormalities were present. The disorder resembled type III (see 204870) clinically but differed in that its age of onset was late (70 to 90 years).
The transmission pattern of CDL3A in the families reported by Yamamoto et al. (1998) was consistent with autosomal dominant inheritance, with examples of male-to-male transmission and involvement of 3 generations in 1 family.
In affected members of 3 Japanese families with CDL3A and in 4 additional patients with sporadic CDL3A, Yamamoto et al. (1998) identified heterozygosity for the same missense mutation in the TGFBI gene (P501T; 601692.0005). The mutation segregated with the disorder in the families.
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.
Stix, B., Leber, M., Bingemer, P., Gross, C., Ruschoff, J., Fandrich, M., Schorderet, D. F., Vorwerk, C. K., Zacharias, M., Roessner, A., Rocken, C. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Invest. Ophthal. Vis. Sci. 46: 1133-1139, 2005. [PubMed: 15790870] [Full Text: https://doi.org/10.1167/iovs.04-1319]
Stock, E. L., Feder, R. S., O'Grady, R. B., Sugar, J., Roth, S. I. Lattice corneal dystrophy type IIIA: clinical and histopathologic correlations. Arch. Ophthal. 109: 354-358, 1991. [PubMed: 2003794] [Full Text: https://doi.org/10.1001/archopht.1991.01080030056038]
Yamamoto, S., Okada, M., Tsujikawa, M., Shimomura, Y., Nishida, K., Inoue, Y., Watanabe, H., Maeda, N., Kurahashi, H., Kinoshita, S., Nakamura, Y., Tano, Y. A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA. (Letter) Am. J. Hum. Genet. 62: 719-722, 1998. [PubMed: 9497262] [Full Text: https://doi.org/10.1086/301765]