Attitudes to predictive DNA testing for myocilin glaucoma: Experience with a large Australian family

Journal of Glaucoma

Volumn 13, Issue 4, 2004, Pages 304-311

  Healey, Danielle L ^a   Craig, Jamie E ^a,b,c   Wilkinson, Colleen H ^a,b   Stone, Edwin M ^d   Mackey, David A ^a,b,e  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF TASMANIA   (Australia)

^c FLINDERS UNIVERSITY   (Australia)

^d UNIVERSITY OF IOWA   (United States)

^e ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

Genetic counseling; Glaucoma; Myocilin; Predictive DNA testing

Indexed keywords

MYOCILIN;

ARTICLE; ATTITUDE; AUSTRALIA; BLINDNESS; DNA DETERMINATION; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GLAUCOMA; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOC GENE; OPEN ANGLE GLAUCOMA; PREDICTION; PRIORITY JOURNAL; QUESTIONNAIRE; VISUAL IMPAIRMENT;

ATTITUDE TO HEALTH; AUSTRALIA; CYTOSKELETAL PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; PEDIGREE;

EID: 3242712177     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00061198-200408000-00008     Document Type: Article

References (41)

1. Coote MA, McCartney PJ, Wilkinson RM, et al. The "GIST" score: ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania. Ophthal Genet. 1996;17:199-208.
2. Craig JE, Mackey DA. Glaucoma genetics: where are we? Where will we go? Curr Opin Ophthalmol. 1999;10:126-134.
3. Rahmani B, Tielsch JM, Katz J, et al. The cause-specific prevalence of visual impairment in an urban population. The Baltimore Eye Survey. Ophthalmol. 1996;103:1721-1726.
4. Mitchell P, Smith W, Attebo K, et al. Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study. Ophthalmology. 1996;103:1661-1669.
5. McLean IM, Mueller E, Buttery RG, et al. Visual field assessment and the Austroads driving standard. Clin and Exp Ophthalmol. 2002;30:3-7.
6. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80:389-393.
7. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47-50.
8. OnLine Mendelian Inheritance in Man, OMIM,™ The Johns Hopkins University Press, Baltimore, MD. MIM number 137750. Accessed 2002: http://www.ncb.nlm.nih.gov/omim.
9. OnLine Mendelian Inheritance in Man, OMIM,™ The Johns Hopkins University Press, Baltimore, MD. MIM number 601652. Accessed 2002: http://www.ncbi.nlm.nih.gov/omim.
10. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma [comment]. Science. 1997;275:668-670.
11. Takahashi H, Noda S, Mashima Y, et al. The myocilin (MYOC) gene expression in the human trabecular meshwork. Curr Eye Res. 2000;20:81-84.
12. Mertts M, Garfield S, Tanemoto K, et al. Identification of the region in the N-terminal domain responsible for the cytoplasmic localization of Myoc/Tigr and its association with microtubules. Lab Invest. 1999;79:1237-1245.
13. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin [comment]. Science. 2002;295:1077-1079.
14. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet. 1997;60:296-304.
15. Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999;117:237-241.
16. Trifan OC, Traboulsi EI, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol. 1998;126:17-28.
17. Stoilova D, Child A, Trifan OC, et al. Localization of a locus (GLCIB) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996;36:142-150.
18. Wolfs RC, Klaver CC, Ramrattan RS, et al. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol. 1998;116:1640-1645.
19. Mao LK, Stewart WC, Shields MB. Correlation between intraocular pressure control and progressive glaucomatous damage in primary open-angle glaucoma. Am J Ophthalmol. 1991;111:51-55.
20. Smith R. The enigma of POAG. Trans Ophthalmol Soc UK. 1986;105:618-633.
21. Heijl A, Leske MC, Bengtsson B, et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial [comment]. Arch Ophthalmol. 2002;120:1268-1279.
22. Wensor MD, McCarty CA, Stanislavsky YL, et al. The prevalence of glaucoma in the Melbourne Visual Impairment Project. Ophthalmology. 1998;105:733-739.
23. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
24. Conneally PM. Huntington disease: genetics and epidemiology. Am J Hum Genet. 1984;36:506-526.
25. Almqvist E, Adam S, Bloch M, et al. Risk reversals in predictive testing for Huntington disease. Am J Hum Genet. 1997;61:945-952.
26. Human Genetics Society of Australasia. DNA Predictive Testing for Genetic Disorders. 1998. Available at http://www.hgsa.com.au/. Accessed. 2002;September:23.
27. Australian National Health and Medical Research Council's Australian Health Ethics Committee. Genetic Screening-Ethical and Philosophical Perspectives. 1997. Available at http://www.health.gov.au/nhmrc/ethics/contents. htm. Accessed. 2002;September:30.
28. Australian National Health and Medical Research Council's Australian Health Ethics Committee. Ethical Aspects of Human Genetic Testing-An Information Paper 2000. Available at: http://www.health.gov. au/nhmrc/ethics/contents.htm. Accessed September 23, 2002.
29. Vernon SA. The changing pattern of glaucoma referrals by optometrists. Eye. 1998;12:854-857.
30. Tielsch JM, Katz J, Singh K, et al. A population-based evaluation of glaucoma screening: the Baltimore Eye Survey. Am J Epidemiol. 1991;134:1102-1110.
31. Tuck MW, Crick RP. Efficiency of referral for suspected glaucoma. BMJ. 1991;302:998-1000.
32. Mackey DA, Healey DL, Fingert JH, et al. Glaucoma Phenotype in Pedigrees with the Myocilin Thr377Met Mutation. Arch Ophthalmol. (in press).
33. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA). N Engl J Med. 1998;338:1022-1027.
34. Lynch HT, Lemon SJ, Durham C, et al. A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer. 1997;79:2219-2228.
35. Huggins M, Bloch M, Wiggins S, et al. Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet. 1992;42:508-515.
36. Sack J, Healey DL, de Graaf AP, et al. The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST). Ophthalmic Genet. 1996;17:209-214.
37. Fanos JH, Johnson JP. Perception of carrier status by cystic fibrosis siblings. Am J Hum Genet. 1995;57:431-438.
38. Craig JE, Baird PN, Healey DL, et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmol. 2001;108:1607-1620.
39. Mitchell P, Moffitt P. Update and implications from the Newcastle diabetic retinopathy study. Aust N Z J Ophthalmol. 1990;18:13-17.
40. Fingert JH, Stone EM, Sheffield VC, et al. Myocilin glaucoma. Surv Ophthalmol. 2002;47:547-561.
41. Mackey DA, Heon E, Webster A. Management controversy: predictive DNA testing in ophthalmology. Br J Ophthalmol. 2003;87:633-638.