Alternative titles; symbols
SNOMEDCT: 373426005; ORPHA: 98956; DO: 0060447;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 5q31.1 | Corneal dystrophy, epithelial basement membrane | 121820 | Autosomal dominant | 3 | TGFBI | 601692 |
A number sign (#) is used with this entry because of evidence that, although this disorder usually is not considered to be inherited, families with autosomal dominant inheritance and point mutations in the TGFBI gene (601692) have been identified.
The TGFBI gene is mutant in several other forms of corneal dystrophy, including Thiel-Behnke corneal dystrophy (CDTB; 602082), Reis-Bucklers corneal dystrophy (CDRB, or CDB1; 608470), lattice type I corneal dystrophy (CDL1; 122200), lattice type IIIA corneal dystrophy (CDL3A; 608471), Avellino corneal dystrophy (ACD; 607541), and Groenouw type I corneal dystrophy (CDGG1; 121900).
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).
First described by Cogan et al. (1964), map-dot-fingerprint dystrophy (MDFD) is a bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination (Cogan et al., 1974). Findings are variable and can change with time. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris (Brodrick et al., 1974; Rodrigues et al., 1974). While the disorder is usually asymptomatic, up to 10% of patients may have recurrent corneal erosions, usually beginning after age 30; conversely, 50% of patients presenting with idiopathic recurrent erosions have evidence of MDFD. Laibson and Krachmer (1975) reported 10 families demonstrating autosomal dominant inheritance of MDFD, with affected children as well as adults. Since Werblin et al. (1981) showed that MDFD is present in up to 76% of persons over age 50, they suggested that it may represent an age-dependent degenerative condition of the cornea, although autosomal dominant inheritance could not be ruled out.
Dinh et al. (1999) reviewed 50 excimer laser phototherapeutic keratectomy (PTK) procedures. Preoperative diagnoses included Reis-Bucklers dystrophy (608470), granular dystrophy (121900), anterior basement membrane dystrophy, lattice dystrophy (see 122200), and Schnyder crystalline dystrophy (121800). The authors concluded that PTK can restore and preserve useful visual function for a significant period of time in patients with anterior corneal dystrophies. Even though corneal dystrophies are likely to recur eventually after PTK, successful retreatment with PTK is possible.
The transmission pattern of EBMD in the families reported by Boutboul et al. (2006) was consistent with autosomal dominant inheritance.
In affected members of 2 families with epithelial basement membrane corneal dystrophy, as well as in single affected individuals, Boutboul et al. (2006) identified heterozygous missense mutations in the TGFBI gene (601692.0012-601692.0013), which is the site of mutations causing several other forms of corneal dystrophy. Based on their screening, Boutboul et al. (2006) estimated that up to 10% of EBMD patients could have a mutation in this gene.
Boutboul, S., Black, G. C. M., Moore, J. E., Sinton, J., Menasche, M., Munier, F. L., Laroche, L., Abitbol, M., Schorderet, D. F. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum. Mutat. 27: 553-557, 2006. [PubMed: 16652336] [Full Text: https://doi.org/10.1002/humu.20331]
Brodrick, J. D., Dark, A. J., Peace, G. W. Fingerprint dystrophy of the cornea: a histologic study. Arch. Ophthal. 92: 483-489, 1974. [PubMed: 4547959] [Full Text: https://doi.org/10.1001/archopht.1974.01010010497006]
Cogan, D. G., Donaldson, D. D., Kuwabara, T., Marshall, D. Microcystic dystrophy of the corneal epithelium. Trans. Am. Ophthal. Soc. 62: 213-225, 1964. [PubMed: 14269893]
Cogan, D. G., Kuwabara, T., Donaldson, D. D., Collins, E. Microcystic dystrophy of the cornea: a partial explanation for its pathogenesis. Arch. Ophthal. 92: 470-474, 1974. [PubMed: 4547958] [Full Text: https://doi.org/10.1001/archopht.1974.01010010484004]
Dinh, R., Rapuano, C. J., Cohen, E. J., Laibson, P. R. Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. Ophthalmology 106: 1490-1497, 1999. [PubMed: 10442892] [Full Text: https://doi.org/10.1016/S0161-6420(99)90441-4]
Laibson, P. R., Krachmer, J. H. Familial occurrence of dot (microcystic), map, fingerprint dystrophy of the cornea. Invest. Ophthal. 14: 397-399, 1975. [PubMed: 1079207]
Rodrigues, M. M., Fine, B. S., Laibson, P. R., Zimmerman, L. E. Disorders of the corneal epithelium: a clinicopathologic study of dot, geographic, and fingerprint patterns. Arch. Ophthal. 92: 475-482, 1974. [PubMed: 4139941] [Full Text: https://doi.org/10.1001/archopht.1974.01010010489005]
Werblin, T. P., Hirst, L. W., Stark, W. J., Maumenee, I. H. Prevalence of map-dot-fingerprint changes in the cornea. Brit. J. Ophthal. 65: 401-409, 1981. [PubMed: 7260010] [Full Text: https://doi.org/10.1136/bjo.65.6.401]