Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy

Cornea

Volumn 29, Issue 6, 2010, Pages 698-700

  Edelstein, Sean L ^a   Huang, Andrew J W ^b   Harocopos, George J ^b   Waltman, Stephen R ^b  

^a Anheuser Busch Eye Institute at St Louis University   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Avellino; Granular deposits; Lattice; R124C mutation; TGFBI gene

Indexed keywords

KERATOEPITHELIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AVELLINO CORNEA DYSTROPHY; CASE REPORT; CHROMOSOME 5Q; CONJUNCTIVAL HYPEREMIA; CORNEA DYSTROPHY; CORNEA EROSION; CORNEA STROMA; CORNEA TRANSPLANTATION; DNA SEQUENCE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; MALE; PENETRATING KERATOPLASTY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL ACUITY;

ADULT; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; HUMANS; KERATOPLASTY, PENETRATING; MALE; POINT MUTATION; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY;

EID: 77952955410     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e3181c377a5     Document Type: Article

References (8)

1. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247-251.
2. Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6: 47-51.
3. Okada M, Yamamoto S, Watanabe H, et al. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol. 2000;129:411-412.
4. Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62: 719-722.
5. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology. 1992;99:1564-1568.
6. Santos LN, Fernandes BF, de Moura LR, et al. Histopathologic study of corneal stromal dystrophies: a 10-year experience. Cornea. 2007;26: 1027-1031.
7. Weiss JS, Møller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27(Suppl 2):S1-S83.
8. Konishi M, Yamada M, Nakamura Y, et al. Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. Curr Eye Res. 2000;21:891-896.