The genetics of primary open angle glaucoma

British Journal of Ophthalmology

Volumn 81, Issue 5, 1997, Pages 409-414

  Booth, Adam ^a   Churchill, Amanda ^a   Anwar, Rashida ^a   Menage, Mitch ^b   Markham, Alexander ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME; GENE LOCATION; GENETICS; HUMAN; INHERITANCE; MOLECULAR GENETICS; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0030965824     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.81.5.409     Document Type: Short Survey

References (95)

1. Glaser T, Walton DS, Maes RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX 6 gene. Nature Genet 1992;2:232-9.
2. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
3. Editorial. Genetic associations of glaucoma. Br J Ophthalmol 1980;64:225-6.
4. Becker B, Morton WR. Phenylthiourea taste testing and glaucoma. Arch Ophthalmol 1964;72:323-7.
5. Epstein DL. Primary open-angle glaucoma. In: Epstein DL, ed. Chandler and Grant's glaucoma. 3rd ed. Philadelphia: Lea and Febiger, 1986:129.
6. Benedict TWG. Abhandlungen aus dem Geriete der Augenheilkunde. Breslau: L Freunde, 1842:123-32.
7. Netland PA, Wiggs JL, Dreyer EB. Inheritance of glaucoma and genetic counselling of glaucoma patients. Int Ophthalmol Clin 1990;332:101-20.
8. Teikari JM. Genetic factors in open-angle (simple and capsular) glaucoma: a population-based twin study. Acta Ophthalmol (Copenh) 1987;65:715-20.
9. Pimentel PC. Consanguinity and morbid heredity. Ophthalmos 1941;2:329-34.
10. Waardenburg PJ. Is primary (pre)-senile glaucoma repeatedly hereditary and, if so, what is the mode of hereditary transmission? Ophthalmologica 1950;119:250-2.
11. Biro I. Notes upon question of hereditary of glaucoma. Ophthalmologica 1951;122:228-38.
12. Lichter PR. Genetic clues to glaucoma's secrets. The L Edward Jackson memorial lecture. Part 2. Am J Ophthalmol 1994;117:706-27.
13. François J. Genetic predisposition to glaucoma. Dev Ophthalmol 1981;3:1-45.
14. Posner A, Schlossman A. Role of inheritance in glaucoma. Arch Ophthalmol 1949;41:125-50.
15. Leydhecker W. Simple glaucoma before the age of 30 years. Ophthalmologica 1979;178:32-6.
16. Crombie AL, Cullen JF. Hereditary glaucoma. Occurrence in five generations of an Edinburgh family. Br J Ophthalmol 1964;48:143-7.
17. Fleck BW, Cullen JF. Autosomal dominant juvenile onset glaucoma affecting six generations in an Edinburgh family. Br J Ophthalmol 1986;70:715.
18. Stokes WH. Hereditary primary glaucoma. A pedigree with five generations. Arch Ophthalmol 1940;24:885-909.
19. Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WLM. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 1993;100:524-9.
20. Goldwyn R, Waltman SR, Becker B. Primary open-angle glaucoma in adolescents and young adults. Arch Ophthalmol 1970;84:579-82.
21. Bell J. The treasury of human inheritance. In: Pearson K, ed. Eugenics lab memoirs 26. 2: Anomalies and diseases of the eye. Cambridge: Cambridge University Press, 1931.
22. Walton DS. Juvenile open-angle glaucoma. In: Epstein DL, ed. Chandler and Grant's glaucoma. 3rd ed. Philadelphia: Lea and Febiger, 1986:528-9.
23. Martin JP, Zorab EC. Familial glaucoma in nine generations of a south Hampshire family. Br J Ophthalmol 1974;58:536-42.
24. Weatherill JR, Hart CT. Familial hypoplasia of the iris stroma associated with glaucoma. Br J Ophthalmol 1969;53:433-8.
25. Bennet SR, Alward WL, Folberg R. An autosomal dominant form of low-tension glaucoma. Am J Ophthalmol 1989;108:203.
26. Leibowitz HM, Krueger DE, Maunder LR, Milton RC, Kini MM, Kahn HA, et al. The Framingham eye study monograph. Ophthalmology 1980;24: 335-610.
27. Bengtsson B. Incidence of manifest glaucoma. Br J Ophthalmol 1989;73: 483-7.
28. Hollows FC, Graham PC. Intraocular pressure, glaucoma and glaucoma suspects in a defined population. Br J Ophthalmol 1966;50:570-86.
29. Tielsch M, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore eye survey. JAMA 1991;266:369-74.
30. Becker B. Intraocular pressure response to topical corticosteroids. Invest Ophthalmol 1965;4:198-205.
31. Armaly MF. The heritable nature of dexamethasone-induced ocular hypertension. Arch Ophthalmol 1966;75:32-5.
32. Armaly MF. Inheritance of dexamethasone hypertension and glaucoma. Arch Ophthalmol 1967;77:747-51.
33. Schwartz JT, Reuling FH, Feinleb M, Garrison RJ, Collie DJ. Twin study on ocular pressure after topical dexamethasone. I Frequency distribution of pressure response. Am J Ophthalmol 1973;76:126-36.
34. Schwartz JT, Reuling FH, Feinleb M, Garrison RJ, Collie DJ. Twin study on ocular pressure following topically applied dexamethasone. II Inheritance of variation in pressure response. Arch Ophthalmol 1973;90:281-6.
35. Palmberg PF, Mandell A, Wilesky JT, Podos SM, Becker B. The reproducibility of the intraocular pressure response to dexamethasone. Am J Ophthalmol 1975;80:844-56.
36. Becker B. Diabetes mellitus and primary open angle glaucoma. Am J Ophthalmol 1971;71:1-16.
37. Blakeslee AF. Genetics of sensory thresholds: taste for phenylthiocarbamate. Proc Natl Acad Sci 1932;18:120.
38. Kubickova Z, Kloucek F, Kraus H, Dvorakova M. ABO blood groups, secretory behaviour and PTC testing of glaucoma patients. Klin Monatsbl Augenheilkd 1972;161:32-5.
39. Brooks AM, Gillies WE. Blood groups as genetic markers in glaucoma. Br J Ophthalmol 1988;72:270-3.
40. Arrezi R. Report on the ABO blood group system and chronic simple glaucoma. Minerva Oftalmol 1976;18:72-81.
41. Ritch R, Podos SM, Henley W, Moss A, Southern AL, Fotino M. Lack of association of histocompatibility antigens with primary open-angle glaucoma. Arch Ophthalmol 1978;96:2204-6.
42. Weale R. Is the season of birth a risk factor in glaucoma? Br J Ophthalmol 1993;77:214-7.
43. Stewart WC. The effect of lifestyle on the relative risk to develop open-angle glaucoma. Curr Opin Ophthalmol 1995;6:3-9.
44. Coupland SG, Mellgren SGM, Crane M, Lovasik JV, Gimbel HV. Effect of lifestyle change on intraocular pressure and ocular blood flow. Invest Ophthalmol Vis Sci 1996;37:S36.
45. Murray JC, Bennett SR, Kuntek AE, Small KW, Schnizel A, Alward WL, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genet 1992;2:46-9.
46. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, et al. A three base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991;354:478-80.
47. Stoilova D, Child A, Stoilov I, Seghatoleslami R, Crick RP, Sarfarazi M. Genetic linkage study of adult-onset primary open angle glaucoma. Am J Hum Genet 1995;57:A326.
48. Allingham RR, Wiggs JL, Damji KF, Youn J, Tallett DA, Jones KH, et al. Genes linked to systemic hypertension (HTN) and maturity onset diabetes of the young (MODY) are not associated with primary open angle glaucoma (POAG). Invest Ophthalmol Vis Sci 1996;37:S456.
49. Ott J. Methods of linkage analysis. In Ott J, ed. Analysis of human genetic linkage. 1st ed. Baltimore and London: Johns Hopkins University Press, 1991:65-8.
50. Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nature Genet 1993;4:47-50.
51. Wiggs JL, Haines JL, Paglinauan C, Fina A, Sporn C, Lou D. Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics 1994;21:299-303.
52. Seghatoleslami MR, Child A, Fossarelo M, Crick RP, Sarfarazi M. Fine mapping of juvenile primary open angle glaucoma (POAG) on 1q21-q31 and exclusion of adult-POAG from the respective region. Am J Hum Genet 1994;55:A203.
53. Richards JE, Lichter PR, Boehnke M, Uro JLA, Torrez D, Wong D, et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 1994;54:62-70.
54. Meyer A, Valtot F, Bechetoille A, Rouland JF, Dascotte JC, Ferec C, et al. Liaison du glaucome juvenile au chromosome 1q dans deux familles françaises. Comptes Rend l'Acad Sci 1994;317:565-70.
55. Morissette J, Côté G, Anctil J-L, Plante M, Amyot M, Héon E, et al. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet 1995;56:1431-42.
56. Graff C, Urbak SF, Jerndal T, Wadelius C. Confirmation of linkage to 1q21-q31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. Hum Genet 1995;96:285-9.
57. Johnson AT, Richards JE, Boehnke M, Stringham HM, Herman SB, Wong DJ, et al. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmology 1996;103:808-14.
58. Meyer A, Béchetoille A, Valtot F, Dupont de Dinechin S, Adam MF, Belmouden A, et al. Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family. Hum Genet 1996;98:567-71.
59. Sheffield V, Sunden SLF, Alward WLM, Rohlinka TR, Nichols BE, Stone EM. High-density mapping of the juvenile open angle glaucoma region. Invest Ophthalmol Vis Sci 1996;37:S457.
60. Lowe DG, Kisak I, Sparkes RS, Mohandas R, Goeddel DV. Chromosomal distribution of three members of the human natriuretic pepetide receptor/ guanyl cyclase family. Genomics 1990;8:304-12.
61. Fukushima Y, Pikkarainen T, Kallunki T, Eddy RL, Byers MG, Haley LL, et al. Isolation of a human laminin B2 cDNA clone and assignment of the gene to chromosome region 1q25-q31. Cytogenet Cell Genet 1988;48:137-41.
62. Lane LK, Shull MM, Whitmoer KR, Lingrel JB. Characterization of two genes for human Na, K-ATPase beta subunit. Genomics 1989;5:445-53.
63. Olson S, Wang MG, Carafoli E, Strehler EE, McBride OW. Localization of two genes encoding plasma membrane Ca2+ transporting ATPases to human chromosomes 1q25-32 and 12q21-23. Genomics 1991;9:629-41.
64. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-70.
65. Polansky JR, Kurtz RM, Alvarado JA, Weinreb RM, Mitchell MD. Eicosanoid production and glucocorticoid regulatory mechanisms in cultured human trabecular meshwork cells. Prog Clin Biol Res 1989;312: 113-38.
66. Escribano J, Ortego J, Coca-Prados M. Isolation and subtraction of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins. J Biochem 1995;118:921-31.
67. Nguyen TD, Polansky JR, Huang W. Methods for the diagnosis of glaucoma. International patent application PCT/US95/14024, 1996.
68. Polansky JR. In: Lutjen-Drecoll E, ed. Basic aspects of glaucoma research III. Stuttgart, New York: Schattauer, 1993:307-18.
69. Meyer A, Béchetoille A, Valtot F, Bach J-F, Garchon H-J. Incomplete penetrance of chromosome 1-linked juvenile glaucoma gene and phenocopies in a large family. Invest Ophthalmol Vis Sci 1995;36:S554.
70. Johnson AT, Lichter PR, Richards JE. Genetic screening of at risk individuals in families with chromosome 1q glaucoma. Invest Ophthalmol Vis Sci 1995;36:S1034.
71. Johnson AT, Racciato J, Torrez D, Herman S, Boehnke M, Stringham H, et al. Linkage analysis of autosomal dominant juvenile-onset open-angle glaucoma in an Ohio family. Invest Ophthalmol Vis Sci 1994;35:1471.
72. Pralea M, Mattox CL, Haines JL, Schuman JS, Wiggs JL. Genetic analysis of juvenile glaucoma: phenotypic comparison of pedigrees genetically linked to 1q21-q31 with those affected pedigrees not genetically linked to the chromosome 1 locus. Am J Hum Genet 1995;57:A249.
73. WuDunn D, Parrish II RK, Inana G. Genetic heterogeneity in Hispanic families with autosomal dominant, juvenile-onset, primary open angle glaucoma. Invest Ophthalmol Vis Sci 1996;37:S34.
74. Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 1995;102:1782-9.
75. Arias-Puente A, Gomez ML, Carrasco C, Garcia-Feijoo J, Shafik M, Kamel NR, et al. Juvenile glaucoma. Irido-corneal angle morphology. Invest Ophthalmol Vis Sci 1996;37:S819.
76. Stegman Z, Sokol J, Tello C, Krivoy D, Liebmann JM, Ritch R. Reduced trabecular meshwork size in juvenile primary open angle glaucoma. Invest Ophthalmol Vis Sci 1995;36:S564.
77. Sheth B, Héon E, Kalenak J, Taylor CM, Streb LM, Alward WLM, et al. Clinical and molecular evaluation of a large family with iris hypoplasia and glaucoma. Invest Ophthalmol Vis Sci 1995;36:S554.
78. Mears AJ, Mirzayans F, Gould DB, Pearce WG, Walter MA. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet 1996;59:1321-7.
79. Héon E, Sheth BP, Kalenak JW, Sunden SLF, Streb LM, Taylor CM, et al. Linkage of autosomal dominant iris hypoplasia to the Rieger syndrome locus (4q). Am J Hum Genet 1995;57:A193.
80. David R, Jenkins T. Generic markers in glaucoma. Br J Ophthalmol 1980;64: 227-31.
81. Matthew S, Chaudhuri A, Murty VVVS, Pogo AO. Confirmation of Duffy blood-group antigen locus at 1q22-q23 by fluorescence in-situ hybridisation. Cytogen Cell Gen 1994;67:68.
82. Wire MK, Kramer PL, Topinka JR, Acott TS, Samples JR. The adult onset POAG gene in a large kindred is distinct from the juvenile glaucoma locus on chromosome 1q. Invest Ophthalmol Vis Sci 1995;36:S555.
83. Seghatpleslami MR, Stoilova D, Child A, Crick RP, Sarfarazi M. Exclusion mapping of the adult-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1995;36:S1034.
84. Avramopoulos D, Kitsos G, Grigoriadou M, Economou-Petersen E, Vassilopoulos D, Psilas K, et al. Linkage studies in primary open angle glaucoma. Am J Hum Genet 1994;55:A345.
85. Richards JE, Lichter PR, Herman S, Hauser E, Hou Y-C, Johnson AT, et al. Genetics of middle-age onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1996;37:S34.
86. Wiggs JL, Allingham RR, DelBono EA, Reardon M, Ter-minassian M, Damji KF, et al. The juvenile glaucoma gene on 1q21-q31 is not associated with primary open angle glaucoma (POAG). Invest Ophthalmol Vis Sci 1996;37:S456.
87. Raymond V, Plante, M, Côté G, Anctil J-L, Arnyot M, Weissenbach J, et al. A common gene for juvenile and middle-age onset open-angle glaucomas confined on chromosome 1q. Invest Ophthalmol Vis Sci 1995;36:S1034.
88. Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary open-angle glaucoma. Am J Hum Genet 1996;5&:243-4.
89. Sarfarazi M, Akarsu AN, Barsoum-Homsy M, Turacli ME, Houssain A, Chevrette L, et al. Exclusion of primary congenital glaucoma from two candidate regions of chromosomes 1 and 6. Am J Hum Genet 1994;55:A353.
90. Paglinauan C, Haines JL, Del Bono EA, Schulman J, Stawski S, Wiggs JL. Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome. Am J Hum Genet 1995;56:1240-3.
91. Stoilova D, Child A, Trifan OC, Pitts Crick R, Coakes RL, Sarfarazi M. Localisation of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics 1996;36:142-50.
92. Wirtz MK, Samples JR, Kraemer PL, Rust K, Topinka JR, Yount J, et al. Mapping a gene for adult-onset primary open angle glaucoma to chromosome 3p. Am J Hum Genet 1997;60:296-304.
93. Vogel G. Glaucoma gene provides light at the end of the tunnel. Science 1997;275:621.
94. Martin XD. La genetique du glaucome. Rev Medicale Suisse Romande 1994; 114:557-64.
95. Hahn M. Retinitis pigmentosa: problems associated with genetic classification. Clin Genet 1993;44:62-70.