Molecular genetics of central retinal dystrophies

Australian and New Zealand Journal of Ophthalmology

Volumn 24, Issue 3, 1996, Pages 189-196

  Moore, Anthony T ^a   Evans, Kevin ^b  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

macula; molecular genetics; retinal dystrophies

Indexed keywords

HUMAN; MOLECULAR GENETICS; RETINA DYSTROPHY; REVIEW;

EID: 0029853032     PISSN: 08149763     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1442-9071.1996.tb01580.x     Document Type: Review

References (77)

1. Apfelstedt-Sylla E, Theischen M, Ruther K, et al. Extensive intrafamilial and interfamilial phenotyptic variation among patients with autosomal dominant retinal dystrophy and muations in the human peripherin/RDS gene. Br J Ophthalmol 1995;79:28-34.
2. Jacobson SG, Kemp CM, Cideciyan AV, Sun XK, Vandenburgh K, Sheffield VC, et al. Spectrum of functional phenotypes in rds gene mutations. [Abstract] Invest Ophthalmol Vis Sci 1994;35:1044.
3. Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. Hum Mol Genet 1994;3:367-8.
4. Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993;111:1531-42.
5. Hoyng CB, Heutink P, Deutman AF, Oostra BA. A mutation in codon 142 in central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci 1995;36(Suppl):3817.
6. Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet 1993;3:202-6.
7. Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, Bird A. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet 1993;3:213-18.
8. Reig C, Alicia S, Gean E, Vidal M, Arumi J, De la Calzada MD et al. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthlmol Genet 1995;16:39-44.
9. Jacobson SG, Kemp CM, Cideciyan AV, Sun XK, Vandenburgh K, Sheffield VC,. Stone EM. Spectrum of functional phenotypes in rds gene mutations. [Abstract] Invest Ophthalmol Vis Sci 1994;35:1044.
10. Nakazawa M, Kikawa E, Chida Y, Tamai M. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum Mol Genet 1994;3:1195-6.
11. Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet 1993;2:601-3.
12. Weber, BHF, Vogt G, Pruett RC, Stohr H, Felbor U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet 1994;8:352-6.
13. Jacobson S, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K Sheffield VC, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet 1995;11:27-32.
14. Felbor V, Stohr H, Amann T, Schonherr V, Weber BHF. A novel ser 156 cys mutation in the tissue inhibitor of metalloproteinase 3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 1995;4:2415-16.
15. Kaplan J, Gerber S, Larget-Piet D, Rozet J, Dollfus H, Dufier J, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nature Genet 1993;5:308-11.
16. Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardtlike dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994; 112:765-72.
17. Small KW, Weber J, Roses A, Pericak-Vance P. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. Ophthalml Paediat Genet 1993;14:143-50.
18. Kelsall R, Godley B, Evans K, Tiffin PAC, Gregory CY, Plant C, et al. Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;9:1653-6.
19. Tranebjaerg L, Sjo O, Warburg M. Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1:6(q44:q27). Ophthal Paediatr Genet 1986;7:167-73.
20. Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers H, Mariman ECM. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet 1994;3:299-302.
21. Ferrell RE, Hittner HM, Antaszyk JH. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluable glutamate pyruvate transaminase (GPT1) locus. Am J Hum Genet 1983;35:78-84.
22. Nichols BE, Bascom R, Litt M. Mclnnes R, Sheffield VC, Stone EM. Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM 1. Am J Hum Genet 1994;54:95-103.
23. Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Seidman CE. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-64.
24. Small KW, Mullin L, Syrguin M, Gehrs K, Inana G. Autosomal dominant cone degeneration maps to chromosome 17p. Am J Hum Genet 1995;57:1171.
25. Kylstra JA, Aylsworth AS. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can J Ophthalmol 1993;28:79-80.
26. Warburg M, Sjo O, Fledelius HC. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am J Med Genet 1991;39:288-293.
27. Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker J, Gregory CY, et al Genetic linkage of conerod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nature Genet 1994;6:210-13.
28. George NDL, Payne SJ, Barton D, Moore AT, Yates JRW. Genetic mapping of X-linked retinoschisis. 5th X chromosome workshop, 1994. Heidelberg, Germany. p83.
29. Meire FM, Bergen AAB, De Rouck A, Leys M, Dellman JW. X linked cone dystrophy, localisation of the gene locus to Xp21-p11.l by linkage analysis. Br J Ophthalmol 1994;78:103-8.
30. Reichel E, Bruce AM, Sandberg MA, Berson EL. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol 1989;108:540-547.
31. Bird AC Retinal photoreceptor dystrophies. Am J Ophthalmol 1995;118:543-62.
32. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995;4:1739-43.
33. Bascom RA, Manara S, Collins L, et al. Cloning of the cDNA for a novel photoreceptor mebrane (rom-1) identifies a disc rim protein family implicated in the human retinopathies. Neuron 1992;8:1171-84.
34. Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989;338:70-3.
35. Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480.
36. 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.
37. Kemp CM,Jacobsen SG, Cideciyan AV, et al. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality of photoreceptor function. Invest Ophthalmol Vis Sci 1994;35:3154-62.
38. Polkinghorne PJ, Capon MR, Berninger T, Lyness AL, Sehmi K, Bird AC. Sorsby's fundus dystrophy. A clinical study. Ophthalmology 1989;96:1763-8.
39. Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC. Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. Invest Ophthalmol Vis Sci 1992;33:1633-6.
40. Capon MR, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby's fundus dystrophy. A light and electron microscopic study. Ophthalmology 1989;96:1769-77.
41. Acott TS, Weleber RG. Vitamin A megatherapy for retinal abnormalities. Nature Med 1995;1:884-5.
42. Fishman GA. Fundus flavimaculatus. Arch Ophthalmol 1976;94:2061-7.
43. Bonnin P, Passet M, Tricolaire-Cotten M. Le signe du silence choroidien dans les degenerescences tapetoretienes posterieures. Doc Ophthalmol Proc Ser 1976;9:461-3.
44. Fishman GA, Farbman JS, Alexander KR. Delayed rod dark adaption in patients with Stargardt's disease. Ophthalmology 1991;98:957-62.
45. Heher KL, Johns DR. A maculopathy associated with the 15257 mitochondrial DNA mutation. Arch Ophthalmol 1993;111:1495-9.
46. Godel V, Chaine G, Regenbogen L, Coscas G. Best's vitelliform macular dystrophy. Acta Ophthalmol 1986;175:5-31.
47. Weingeist TA, Kobrin JL, Watzke RC. Histopathology of Best's macular dystrophy. Arch Ophthalmol 1982;100:1108-14.
48. Frangieh GT, Green R, Fine SL. A histopathologic study of Best's macular dystrophy. Arch Ophthalmolol 1982;100:1115-21.
49. Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state. Arch Ophthalmol 1969;81:305-16.
50. Weber BHF, Walker D, Müller B. Molecular evidence for non-penetrance in Best's disease. J Med Genet 1994;31:388-92.
51. Foreman K, Graff C, Nordstrom S, et al. The gene for Bests macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 1992;42:156-9.
52. Manserth FL, Kenna PF, Rudolf G, Meitinger T, Farrar GJ, Kumar-Singh R et al. Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. J Med Genet 1995;32:855-8.
53. Small KW, Killian J, McLean WL. North Carolina dominant progressive foveal dystrophy, how progressive is it? Br J Ophthalmol 1991; 75:401-6.
54. Small KW, Hermsen V, Gurney N, Fetenhour CL, Folk JC. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. Arch Ophthalmol 1992;110:515-18.
55. Holz FG, Evans K, Gregory CY, Bhattacharya SS, Bird AC. Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy Arch Ophthalmol 1995;113:178-84.
56. Waheed A, Wyse CT. Progressive bifocal chorioretinal atrophy. Br J Ophthalmol 1968;52:742-50.
57. Deutman AF, Pinckers AJLG, De Kerk AL. Dominantly inherited cystoid macular oedema. Am J Ophthalmol 1976;82:540-8.
58. Netting JGA, Pinckers AJLG. Dominant cystoid macular oedema. Arn J Ophthalmol 1977;83:234-41.
59. Fishman GA, Goldberg MF, Trautmann JC. Dominantly inherited cystoid macular oedema. Am J Ophthalmol 1979;11:21-7.
60. Pinckers A, Deutman AF, Lion F, Aan de Kerk AL. Dominant cystoid macular dystrophy. Ophthalmol Paediat Genet 1983;3:157-67.
61. Loeffler KU, Li Z-L, Fishman GA, Tso MOM. Dominant inherited cystoid macular edema, a histopathological study. Ophthalmology 1992;99:1385-92.
62. Inglehearn CF, Carter SA, Keen TJ, Lindsey J, Stephenson AM, Bashir R, et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nature Genet 1993;4:51-3.
63. Keen TJ, Inglehearn CF, Patel RJ, Green ED, Peluso JC, Bhattacharya SS. Localisation of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526. Genomics 1995;25:599-600.
64. Moore AT. Cone and cone-rod dystrophies. J Med Genet 1992;29:289-90.
65. George NG, Yates JRW, Moore AT. Juvenile X-linked retinoschisis. Br J Ophthalmol 1995;79:696-702.
66. George NG, Yates JRW, Moore AT. Infantile presentation of juvenile X-linked retinoschisis. Br J Ophthalmol 1995;79:653-7.
67. Murayama K, Kuo CY, Sieving PA. Abnormal threshold ERG response in X-linked juvenile retinoschisis. Clin Vis Sci 1991;6:317-22
68. Arden GB, Gorin MB, Polkinghorne PJ, Jay M, Bird AC. Detection of the carrier state of X-linked retinoschisis. Am J Ophthalmol 1988;105:590-5.
69. Yanoff M, Rahn EK, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol 1968;79:49-53.
70. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol 1972;88:131-7.
71. Dahl N, Goonewardena P, Chotai J, Anvret M, Pettersson U. DNA linkage analysis of X-linked retinoschisis. Hum Genet 1988;78:228-32.
72. Alitalo T, Kruse TA, de la Chapelle A. Refined localisation of the gene causing X-. linked juvenile retinoschisis. Genomics 1991;9:505-10.
73. Alitalo T, Kruse TA, Ahrens P, Albertsen HM, Eriksson AW, de la Chapelle A. Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region. Hum Genet 1991;86:599-603.
74. Orita M, Suzuki Y, Sekity AT, Hyashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-9.
75. Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet 1991;48:26-30.
76. Gorin MB, Wright AR In Molecular genetics of inhertied eye disorders, eds Wright AF, Jay B. Ch l. Background to molecular genetic principles and techniques. Harwood academic publishers 1994;1-28.
77. Evans K, Gregory CY, Fryer A, Whittaker J, Duvall-Young J, Bird AC, et al. The role of molecular genetics in the prenatal diagnosis of retinal dystrophies. Eye 1995;9:24-8.