The changing face of the genetics of corneal dystrophies

Current Opinion in Ophthalmology

Volumn 13, Issue 4, 2002, Pages 199-203

  Siddiqui, Nouman ^a   Afshari, Natalie A ^a  

^a DUKE UNIVERSITY EYE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CORNEA DYSTROPHY; DISEASE CLASSIFICATION; GENE MUTATION; HUMAN; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MOLECULAR BIOLOGY; TRANSFORMING GROWTH FACTOR BETA;

EID: 0036678517     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/00055735-200208000-00002     Document Type: Review

References (30)

1. Survey of patients with granular, lattice, avellino, and reis-bucklers corneal dystropohies for mustations in the BIGH3 and gelsolin genes
2. Three autosomal dominant corneal dystrophies map to chromosome 5q
3. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
4. BigH3 mutation spectrum in corneal dystrophies
5. Proteoglycans in cell regulation
6. On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies
7. Advances in the molecular genetics of corneal dystrophies
8. A new clinical perspective on corneal dystrophies through molecular genetics
9. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
10. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
11. Linkage mapping of Thiel Behnke corneal dystrophy (CDB2) to chromosoame 10q23-24
12. Leu518Pro mutation of the Bigh3 gene causes lattice corneal dystrophy type I
13. A new L527R mutation of the BigH3 gene in patients with deep stromal opacities
14. A mutation within exon 14 of GFB1 causes an asymmetric, late-onset form of lattice corneal dystrophy
15. Late-onset form of lattice corneal dystrophy caused by Leu527Arag mutation of the TGFB1 gene
16. Granular corneal dystrophy with homozygous mutations in the keratoepithelin gene
17. Homogeneity of keratoepithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy
18. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of three families
19. Immunohistology of keratoepithelin in corneal stromal dystrophies associated with R124 mutations in BigH3 gene
20. Two patterns of opacity in corneal dystrophy caused by the homozygous bigH3 R124H mutation
21. Human corneal GIcNAc 6-0-sulfotransferase and mouse intestinal CIcNAc 6-0-sulfotransferase both produce keratin sulfate
22. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
23. Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy
24. A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy
25. Missense mutations in CDL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of cornea endothelial dystrophy
26. Linkage of poserior polymorphous corneal dystrophy to 20q11
27. Clinical differentiation of of recessive congenital hereditary dystrophy and dominant hereditary endothelial dystrophy
28. Linkage of congenital hereditary endothelial dystrophy to chromosome 20
29. T-lymphocyte-directed gene therapy for ADA-SCID: Initial trial results after 4 years
30. Molecular genetics is revolutionizing our understanding of ophthalmic disease