Predictive DNA testing for glaucoma: Reality in 2003

Ophthalmology Clinics of North America

Volumn 16, Issue 4, 2003, Pages 639-645

  Mackey, David A ^a,b,d   Craig, Jamie E ^a,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL HOBART HOSPITAL   (Australia)

^c FLINDERS MEDICAL CENTRE   (Australia)

^d ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN;

CONGENITAL GLAUCOMA; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; DNA SCREENING; FAMILY HISTORY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GLAUCOMA; HUMAN; MASS SCREENING; OPEN ANGLE GLAUCOMA; PREDICTION; PRIORITY JOURNAL; REVIEW;

EID: 0346334601     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(03)00066-X     Document Type: Review

References (56)

1. Henry T, Lynch M, De la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-31.
2. Gallie B. predictive testing for retinoblastoma comes of age. Am J Hum Gen 1997;61:27-81.
3. Lohmann D, Brandt B, Oehlschlager U, Gottmann E, Hopping W, Passarge E, et al. Molecular analysis and predictive testing in retinoblastoma. Ophthalmic Genet 1995;16:135-42.
4. Raizis A, Clemett R, Corbett R, McGaughran J, Evans J, George P. Improved clinical management of retinoblastoma through gene testing. N Z Med J 2002;115:231-4.
5. Richter S, Vandezande K, Chen N, Zhang K, Sutherland J, Anderson J, et al. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. Am J Hum Genet 2003;72:253-69.
6. Fingert J, Stone E, Sheffield VC, Alward W. Myocilin glaucoma. Surv Ophthal 2002;47:547-61.
7. Landers J, Goldberg I, Graham S. Analysis of risk factors that may be associated with progression from ocular hypertension to primary open angle glaucoma. Clin Experiment Ophthalmol 2002;30:242-7.
8. Healey P, Mitchell P. Optic disk size in open-angle glaucoma: the Blue Mountains Eye Study. Am J Ophthalmol 1999;128:515-7.
9. Tielsch JM, Katz J, Sommer A, Quigley HA, Javitt JC. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthalmol 1994;112(1):69-73.
10. Kaimbo D, Buntinx F, Missotten L. Risk factors for open-angle glaucoma: a case-control study. J Clin Epidemiol 2001;54:166-71.
11. Charliat G, Jolly D, Blanchard F. Genetic risk factor in primary open-angle glaucoma: a case-control study. Ophthalmic Epidemiol 1994;1:131-8.
12. McNaught AI, Allen JG, Healey DL, McCartney PJ, Coote MA, Wong TL, et al. Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. Arch Ophthalmol 2000;118(7):900-4.
13. Taylor H. Pseudoexfoliation of the lens in Australian Aborigines. Br J Ophthalmol 1977;61:473-5.
14. Mitchell P, Rochtchina E, Lee A, Wang J. Bias in self-reported family history and relationship to glaucoma: the Blue Mountains Eye Study. Ophthalmic Epidemiol 2002;9:333-45.
15. Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, de Jong PT. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol 1998;116(12):1640-5.
16. Eke T, Reddy M, Karwatowski W. Glaucoma awareness and screening uptake in relatives of people with glaucoma. Eye 1999;13:647-9.
17. Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998;125(1): 98-100.
18. Semina E, Reiter R, Leysens N. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:342-9.
19. Flomen R, Vatcheva R, Gorman P, Baptista P, Groet J, Barisic I, et al. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998;47:409-13.
20. Alward WL. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000;130(1): 107-15.
21. Lehmann O, Ebenezer N, Jordan T, Fox M, Ocaka L, Payne A, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 2000;67:1129-35.
22. Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19(2): 140-7.
23. Sale M, Craig J, Charlesworth J, FitzGerald L, Hanson I, Dickinson J, et al. Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Hum Mutat 2002;20:322.
24. Tonn C, Hirvonen H, Miwa H, Weil M, Monaghan P, Jordan T, et al. Positional cloning and characterization of a paired box- and homeobox- containing gene from the aniridia region. Cell 1991;67:1059-74.
25. Vollrath D, Jaramillo-Babb V, Clough M, McIntosh I, Scott K, Lichter P, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998;7:1091-8.
26. Lichter P, Richards J, Downs C, Stringham H, Boehnke M, Farley F. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997;124:506-15.
27. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6(4):641-7.
28. Soley G, Bosse K, Flikier D, Flikier P, Azofeifa J, Mardin C, et al. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555 dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma 2003;12:27-30.
29. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998;62(2):325-33.
30. Kaimbo W, Kaimbo D, Mwilambwe A, Kayembe D, Leys A, Missotten L. Congenital malformations of the eyeball and its appendices in Zaire. Bulletin de la Societe Belge d Ophthalmologe 1994;254:165-70.
31. Seye N, Ba E, Ndiaye M, Ndoye N, Ndiaye P, Wade A. Congenital glaucoma (apropos of 58 cases). Dakar Med 1994;39:87-93.
32. Mashima Y, Suzuki Y, Sergeev Y, Ohtake Y, Tanino T, Kimura I, et al. Cytochrome P4501B1 (CYPIB1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001;42:2211-6.
33. Gencik A. Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in Gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol 1989;16:76-115.
34. Duke-Elder S. Normal and abnormal development: congenital deformities. In: Duke-Elder S, editor. System of ophthalmology. London: Henry Kimpston; 1964. p. 548-65.
35. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, et al. Identification of a gene that causes primary open angle glaucoma [comment]. Science 1997;275(5300):668-70.
36. Kee C, Ahn BH. TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma. Korean J Ophthalmol 1997;11(2):75-8.
37. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet 1997;61(5):1202-4.
38. Mackey D, Healy D, Fingert J, Coote M, Wong T, Wilkinson C, et al. Glaucoma phenotype in pedigrees with the Myocilin Thr377Met mutation. Arch Ophthalmol 2003;121(8):1172-80.
39. Craig JE, Baird PN, Healey DL, McNaught AI, McCartney PJ, Rait JL, et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology 2001;108(9):1607-20.
40. Baird P, Craig J, Richardson A, Ring M, Sim P, Stanwix S, et al. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of Myocilin. Hum Genet 2003;112:110-6.
41. Brezin AP, Adam MF, Belmouden A, Lureau MA, Chaventre A, Copin B, et al. Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998;76(5):438-45.
42. Alward WL, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, et al. Variations in the Myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002;120:1189-97.
43. Shimizu S, Lichter P, Johnson A, Zhou Z, Higashi M, Gottfredsdottir M, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open angle glaucoma. A J Ophthalmol 2000;130:165-77.
44. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin [comment]. Science 2002;295:983-4.
45. Copin B, Brezin AP, Valtot F, Dascotte JC, Bechetoille A, Garchon HJ. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet 2002;70(6): 1575-81.
46. Vickers J, Craig J, Stankovich J, McCormack G, West A, Dickinson J, et al. The apolipoprotein [epsilon]4 gene is associated with elevated risk of normal tension glaucoma. Mol Vis 2002;8:389-93.
47. Bennett D, Wilson R, Schneider J, Evans D, Aggarawl N, Arnold S, et al. Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology 2003;60:246-52.
48. Aung T, Ocaka L, Ebenezer N, Morris A, Brice G, Child A, et al. Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet 2002;110:513-4.
49. Aung T, Ocaka L, Ebenezer N, Morris A, Krawczak M, Fishbaugh JA, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2002;1(110):52-6.
50. Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child A, et al. The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Br J Ophthalmol 2003;87:49-52.
51. Buono L, Foroozan R, Sergott R, Savino P. Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. Curr Opin Ophthalmol 2002;13:362-70.
52. Mackey D, Craig J. Glaucoma Inheritance Study in Tasmania: an international collaboration. In: Denny M, Wallach RS, Dondrea CL, editors. Basic clinical sciences course, section 13, international ophthalmology, part 5. Collaborative Research. XXXIII. San Francisco (CA): American Academy of Ophthalmology; 2002. p. 265-9.
53. Heijl A, Leske M, Bengtsson B, Hyman L, Bengtsson B, Hussein M, et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial [comment]. Arch Ophthalmol 2002;120:1371-2.
54. Mackey D, Craig J, Mc Naught A, Wilkison C, Healey D, Rait JL, et al. Predictive DNA testing for glaucoma with the GLC1A gene: experience with a large Australian family. Invest Ophthalmol Vis Sci 1998;39(Suppl S):S30.
55. Mackey D, Heon E, Webster A. Management controversy: predictive DNA testing in ophthalmology. Br J Ophthalmol 2003;87:633-8.
56. Heon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995;4(3):485-8.