A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 9, 2006, Pages 3919-3926

  Sundin, Olof H ^a,b   Broman, Karl W ^c   Chang, Howard H ^c   Vito, Elizabeth C L ^a   Stark, Walter J ^a   Gottsch, John D ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 18Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONGENITAL CORNEA DYSTROPHY; DISEASE ASSOCIATION; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; FAMILY STUDY; FCD2 GENE; FEMALE; GENE; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM; SHORT TANDEM REPEAT; CHROMOSOME 18; GENETIC MARKER; GENETICS; MIDDLE AGED; PEDIGREE; TANDEM REPEAT;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; TANDEM REPEAT SEQUENCES;

EID: 33749148802     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-1619     Document Type: Article

References (33)

1. Fuchs E. Dystrophia epithelialis corneae. Graefes Arch Clin Exp Ophthalmol. 1910;76:478-508.
2. Vogt A. Weitere Ergebnisse der Spaltlampenmikroskopie des vordern Bulbusabschnittes. Arch Ophthalmol. 1921;106:63-113.
3. Thompson RW Jr, Price MO, Price FW Jr. Long-term graft survival after penetrating keratoplasty. Ophthalmology. 2003;110:1396-1402.
4. Waring GO, Bourne WM, Edelhauser HF, Kenyon KR. The corneal endothelium, normal and pathologic structure and function. Ophthalmology. 1982;89:531-590.
5. Bergmanson JP, Sheldon TM, Goosey JD. Fuchs' endothelial dystrophy: a fresh look at an aging disease. Ophthalmic Physiol Opt. 1999;19:210-222.
6. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD. Corneal endothelial dystrophy: a study of 64 families. Arch Ophthalmol. 1978;96:2036-2039.
7. Gottsch JD, Sundin OH, Liu S, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
8. Hogan MJ, Wood I, Fine M. Fuchs' endothelial dystrophy of the cornea. Am J Ophthalmol. 1974;78:363-383.
9. Waring GO, Bourne WM, Edelhauser HF, Kenyon KR. The corneal endothelium: normal and pathologic structure and function. Ophthalmology. 1982;89:531-590.
10. Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea. 1988;7:2-18.
11. Tuberville AW, Wood TO, McLaughlin BJ. Cytochrome oxidase activity of Fuchs' endothelial dystrophy. Curr Eye Res. 1986;5:939-947.
12. McCartney MD, Wood TO, McLaughlin BJ. Moderate Fuchs' endothelial dystrophy ATPase pump site density. Invest Ophthalmol Vis Sci. 1989;30:1560-1564.
13. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol. 1971;85:268-272.
14. Magovern M, Beauchamp B, McTigue JW, Baumiller RC. Inheritance of Fuchs' combined dystrophy. Ophthalmology. 1979;86:1897-1923.
15. Chang SW, Tuli S, Azar D. Corneal dystrophies. In: Traboulsi E, ed. Genetic Diseases of the Eye a Textbook and Atlas. New York: Oxford University Press; 1998;chap 13.
16. Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
17. Klintworth GK. The molecular genetics of the corneal dystrophies: current status. Front Biosci. 2003;8:687-713.
18. Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W Mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005;46:4504-4511.
19. Marshall GE, Konstas AG, Lee WR. Immunogold fine structural localization of extracellular matrix components in aged human cornea. I: Types I-IV collagen and laminin. Graefes Arch Clin Exp Ophthalmol. 1991;229:157-163.
20. Gottsch JD, Bowers AL, Margulies EH, et al. Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy. Invest Ophthalmol Vis Sci. 2003;44:594-599.
21. Levy SG, Moss J, Sawda H, Dopping-Hepenstal PJC, McCartney ACE. The composition of wide-spaced collagen in normal and diseased Descemet's membrane. Curr Eye Res. 1996;15:45-52.
22. Kobayashi A, Fujiki K, Murakami A, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-198.
23. Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci. 2006;47:140-145.
24. Rubin EM, Tall A. Perspectives for vascular genomics. Nature. 2000;407:265-269.
25. Merikangas KR, Risch N. Genomic priorities and public health. Science. 2003;302:599-601.
26. Rosenblum, P, Stark, WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' dystrophy. Am J Ophthalmol. 1980;90:455-462.
27. Chiou AG, Kaufman SC, Beuerman RW, Ohta T, Soliman H, Kaufman HE. Confocal microscopy in cornea guttata and Fuchs' endothelial dystrophy. Br J Ophthalmol. 1999;83:185-189.
28. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am Human Genet. 1998;63:861-869.
29. Broman KW, Weber JL. Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet. 1998;63:1563-1564.
30. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998;6:259-266.
31. Terwilliger JD, Ott J. Handbook of Human Genetic Linkage. Baltimore: Johns Hopkins University Press; 1994.
32. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am J Hum Genet. 1996;58:1323-1337.
33. Sham P. Statistics in Human Genetics. Arnold: London; 1998;95-97.