Recent advances in the genetics of macular dystrophies

Canadian Journal of Ophthalmology

Volumn 33, Issue 3, 1998, Pages 135-143

  Mah, Dean Y ^a   Wong, Paul W ^a   Edwards, Al ^b   MacDonald, Ian M ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Genetics; Macula; Macular degeneration

Indexed keywords

ADENOSINE TRIPHOSPHATE; PERIPHERIN; TISSUE INHIBITOR OF METALLOPROTEINASE;

GENE MUTATION; HUMAN; RETINA DYSTROPHY; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; RETINOSCHISIS; REVIEW; STARGARDT DISEASE;

EID: 0031814427     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: None     Document Type: Review

References (82)

1. Leibowitz HM, Krueger DE, Maunder LR, et al. The Framingham Eye Study. Surv Ophthalmol 1980;24(suppl): 335-610.
2. Gass DM. Atlas of macular diseases. Washington: C V Mosby; 1987.
3. Inglehearn CF, Hardcastle AJ. Nomenclature for inherited diseases of the retina. Am J Hum Genet 1996;58:433-5.
4. van Nie R, Iványa D, Démant P. A new H-2-linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens 1978;12:106-8.
5. Travis GH, Christerson L, Danielson PE, et al. The human retinal degeneration slow (RDS) gene: chromosomal assignment and structure of mRNA. Genomics 1991; 10: 733-9.
6. Molday RS, Hicks D, Molday L. Peripherin. A rim-specific membrane protein of rod outer segment discs. Invest Ophthalmol Vis Sci 1987;28:50-61.
7. Connel GJ, Molday RS. Molecular cloning, primary structure and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment. Biochemistry 1990;29:4691-8.
8. Bascom RA, Manara S, Collins L, et al. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron 1992;8:1171-84.
9. Moritz DL, Molday RS. Molecular cloning, membrane topology and localization of bovine rom-1 in rod and cone photoreceptor cells. Invest Ophthalmol Vis Sci 1996;37: 352-62.
10. Goldberg AFX, Molday RS. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrophobic evidence for a tetrameric quaternary structure. Biochemistry 1996;35:6144-9.
11. Nakazowa M, Wada Y, Tamai M. Macular dystrophy associated with a monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family. Retina 1995;15:518-23.
12. Gorin MB, Jackson KE, Ferrell RE, et al. A peripherin/ retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 1996;102:246-55.
13. Wroblewski JJ, Wells JA, Eckstein A, et al. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 1994;101:12-22.
14. Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration (RDS) slow gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet 1993;3:213-8.
15. Fossarello M, Bertini C, Galantuomo MS, et al. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. Arch Ophthalmol 1996;114:448-56.
16. Nichols BE, Sheffield VC, Vandenburgh K, et al. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet 1993;3:202-7.
17. Nakazawa M, Kikawa E, Chida Y, et al. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. Arch Ophthalmol 1996;114:72-8.
18. Hawkins RK, Jansen HG, Sanyal S. Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. Exp Eye Res 1985;41:701-20.
19. Arikawa K, Molday LL, Molday RS, et al. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol 1992;116:659-67.
20. Weleber RG, Carr RE, Murphey WH, et al. 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.
21. Sorsby A, Mason MEJ, Gardener N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949;33:67-97.
22. Polkinghorne PJ, Capon MR, Berninger T, et al. Sorsby's fundus dystrophy: a clinical study. Ophthalmology 1989; 96:1763-8.
23. Capon MR, Marshall J, Krafft JI, et al. Sorsby's fundus dystrophy: a light and electron microscope study. Ophthalmology 1989;96:1769-77.
24. Weber BHF, Vogt G, Wolz W, et al. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nature Genet 1994;7:158-61.
25. Apte SS, Mattei MG, Olsen BR. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP3) and mapping of the TIMP3 gene to chromosome 22. Genomics 1994;19:86-90.
26. Weber BH, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet 1994;8: 352-6.
27. Felbor U, Stöhr H, Amann T, et al. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. J Med Genet 1996;33:233-6.
28. Peters AL, Greenberg J. Sorsby's fundus dystrophy. A South African family with a point mutation in the tissue inhibitor of metalloproteinase-3 gene on chromosome 22. Retina 1995;15:480-5.
29. Felbor U, Stöhr H, Amann T, et al. A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet 1995;4:2415-6.
30. Stöhr H, Roomp K, Felbor U, et al. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome Res 1995;5:483-7.
31. Silbiger SM. Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family. Gene 1994;141:293-7.
32. Williamson RA, Marston FA, Angal S, et al. Disulphide bond assignment in human tissue inhibitor of metalloproteinases (TIMP). Biochem J 1990;268:267-74.
33. Apte SS, Olsen BR, Murphy G. The gene structure of tissue inhibitor of metalloproteinases (TIMP-3) and its inhibitory activities define the distinct TIMP gene family. J Biol Chem 1995;270:14313-8.
34. Matrisian LM. The matrix degrading metalloproteinases. Bioessays 1992;14:455-63.
35. Pelletier JP, Mineau F, Faure MP, et al. Imbalance between the mechanisms of activation and inhibition of metalloproteinases in the early lesions of experimental osteoarthritis. Arthritis Rheum 1990;33:1466-76.
36. Della NG, Campochiaro PA, Zack DJ. Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest Ophthalmol Vis Sci 1996;37:1921-4.
37. Fariss RN, Apte SS, Olsen BR, et al. Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of eye. Am J Pathol 1997;150:323-8.
38. Anand-Apte B, Pepper MS, Voest E, et al. Inhibition of angiogenesis by tissue inhibitor of metalloproteinase-3. Invest Ophthalmol Vis Sci 1997;38:817-23.
39. Vaughan DG, Asbury T, Riordan-Eva P. General ophthalmology. Norwalk (CT): Appleton and Lange; 1992: 198-200.
40. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol 1972;88:131-8.
41. Yanoff M, Kertesz E, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol 1968;79:49-53.
42. Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked retinoschisis. Nature Genet 1997;17:164-70.
43. George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996;114:274-80.
44. Forsius H, Krause U, Helve J, Vuopala V, Mustonen E, Vaino-Mattila B, et al. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol 1973;8: 385-93.
45. Kljavin IJ, Reh TA. Müller cells are preferred substrate for in vitro neurite extension by rod photoreceptor cells. J Neurosci 1991;11:2985-94.
46. Scheffield JB, Li HP. Interactions among cells of the developing neural retina in vitro. Am Zool 1987;27:145-9.
47. Huopaniemi L, Rantala A, Tahvanainen E, et al. Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am J Hum Genet 1997;60:1139-49.
48. Kawakami A, Kitsukawa T, Takagi S, et al. Developmentally regulated expression of a cell surface protein, neuropilin, in the mouse nervous system. J Neurobiol 1996;29:1-17.
49. Bartles JR, Galvin NJ, Frazier WA. Discoidin I binds to and agglutinates negatively charged phospholipid vesicles. Biochem Biophys Acta 1982;687:129-36.
50. Springer WR, Cooper DN, Barondes SH. Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin. Cell 1984;39:557-64.
51. Gerber S, Rozet JM, Bonneau D, et al. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am J Hum Genet 1995;56:396-9.
52. Weleber RC. Stargardt's macular dystrophy. Arch Ophthalmol 1994:112:752-4.
53. Fishman GA. Fundus flavimaculatus: a clinical classification. Arch Ophthalmol 1976;94:2061-7.
54. Alberts B, Bray D, Lewis J, et al. Molecular biology of the cell. New York: Garland Publishing; 1994:519-22, 1144-6,1236-7.
55. Hyde SC, Emsley P, Harshorn MJ, et al. Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature 1990;346:362-5.
56. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
57. Shimozawa N, Tsukamoto T, Suzuki Y, et al. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 1992;255:1132-4.
58. Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet 1997;15:236-46.
59. Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nature Genet 1993;5:308-11.
60. Birnback CD, Järveläinen M, Possin DE, et al. Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology 1994;101: 1211-9.
61. Eagle RC. Retinal pigment epithelial abnormalities in fundus flavimaculatus. Ophthalmology 1980;87:1189-1200.
62. Weiter JJ, Delori FC, Wing GL, et al. Retinal pigment epithelial lipofuscin and melanin and choroidal melanin in human eyes. Invest Ophthalmol Vis Sci 1986;27:145-52.
63. Newell FW. Ophthalmology: principles and concepts. St Louis: C V Mosby; 1986:88.
64. Luciani MF, Chimini G. The ATP binding cassette transporter ABC1 is required for the engulfment of corpses generated by apoptotic cell death. EMBO J 1996;15:226-35.
65. Illing M, Molday LL, Molday RS. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 1997;272:10303-10.
66. Martinez-Mir A, Paloma E, Allikmets R, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genet 1998; 18: 11-2.
67. Ross LM. Ophthalmic disorder sourcebook. Detroit: Omnigraphics; 1997:17.
68. Silvestri G. Age-related macular degeneration: genetics and implications for detection and treatment. Mol Med Today 1997;3:84-91.
69. Felbor U. Evaluation of the gene encoding the tissue in- hibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci 1997;38:1054-9.
70. De La Paz MA, Pericak-Vance MA, Lennon F, et al. Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 1997;38: 1060-5.
71. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-7.
72. Kremer H, Pinckers A, van den Helm B, et al. Localization of the gene for dominant cystoid macular dystrophy of chromosome 7p. Hum Mol Genet 1994;3:299-302.
73. Small KW, Weber JL, Roses A, et al. North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13:681-5.
74. Kelsell RE, Godley BF, Evans K, et al. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;4: 1653-6.
75. Zhang K, Bither PP, Park R, et al. A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759-64.
76. Stone EM, Nichols BE, Kimura AE, et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linage to chromosome 6q. Arch Ophthalmol 1994; 112:765-72.
77. Stone EM, Nichols BE, Streb LM, et al. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13, Nature Genet 1992;1:246-50.
78. Graff C, Forsman K, Larsson C, et al. Fine mapping of Best's macular dystrophy localized the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics 1994;24:425-34.
79. Nathans J, Piantanida TP, Eddy RL, et al. Molecular genetics of inherited variation in human color vision. Science 1986;232:203-10.
80. Collins FS. Positional cloning moves from perditional to traditional. Nature Genet 1995;9:347-50.
81. Dowling JE, Wald G. Vitamin A deficiency and night blindness. Proc Natl Acad Sci U S A 1958;44:648-61.
82. Jacobsen SG, Cideciyan AV, Gopalakrishnan R, et al. Nightblindness in Sorsby's fundus dystrophy reversed by vitamin A. Nature Genet 1995;11:27-32.