The genetics of age‐related macular degeneration

REFERENCES

• Klein R, Klein BEK, Linton KLP. Prevalence of age‐related maculopathy. The Beaver Dam Eye Study Ophthalmology 1992; 99: 933–942.
   PubMed Web of Science ®Google Scholar
• Vingerling JR, Dielemans I, Hofman A et al. The prevalence of age‐related maculopathy in the Rotterdam Eye Study. Ophthalmology 1995; 102: 205–210.
   PubMed Web of Science ®Google Scholar
• Mitchell P, Smith W, Attebo K et al. Prevalence of age‐related maculopathy in Australia. The Blue Mountain Eye Study. Ophthalmology 1995; 102: 1450–1460.
   PubMed Web of Science ®Google Scholar
• van Newkirk MR, Nanjan MB, Wang JJ et al. The prevalence of age related maculopathy. The visual impairment project. Ophthalmology 2000; 107: 1593–1600.
   Web of Science ®Google Scholar
• Smith W, Assink JJM, Klein R et al. Risk factors for age related macular degeneration: Pooled findings from three continents. Ophthalmology 2001; 108: 697–704.
   PubMed Web of Science ®Google Scholar
• Kubo N, Ohno Y, Yanagawa H et al. Annual estimated number of patients with senile disciform macular degeneration in Japan. The Ministry of Health and Welfare in Japan. Tokyo , Japan : 1989, p 136.
   Google Scholar
• Feeney L. The phagolysosomal system of the pigment epithelium. A key to retinal disease. Invest Ophthalmol Vis Sci 1973; 12: 635–638.
   Google Scholar
• Feeney‐burns L., Ellersieck M. Age‐related changes in the ultrastructure of Bruch's membrane. Am J Ophthalmol 1985; 100: 686–697.
   PubMed Web of Science ®Google Scholar
• Guymer RH, Luthert P, Bird A. Changes in Bruch's membrane and related structures with age. Prog Retina Eye Res 1998; 18: 59–90.
   Web of Science ®Google Scholar
• Moore DJ, Hussain AA, Marshall J. Age‐related variations in the hydraulic conductivity of Bruch's membrane. Invest Ophthalmol Vis Sci 1995; 36: 1290–1297.
   PubMed Web of Science ®Google Scholar
• Yates RW, Moore AT. Genetic susceptibility to age related macular degeneration. J Med Genet 2000; 37: 83–87.
   PubMed Web of Science ®Google Scholar
• Paetkau ME, Boyd TA, Grace M et al. Senile disciform macular degeneration and smoking. Can J Ophthalmol 1978; 13: 67–71.
   Web of Science ®Google Scholar
• Vingerling JR, Hofman A, Grobbee DE, de Jong PTVM. Age‐related macular degeneration and smoking. The Rotterdam Study. Arch Ophthalmol 1996; 114: 1193–1196.
   PubMedGoogle Scholar
• Smith W, Mitchell P, Leeder SR. Smoking and age‐related maculopathy. The Blue Mountain Eye Study. Arch Ophthalmol 1996; 114: 1518–1523.
   PubMedGoogle Scholar
• Klein R, Klein BE, Linton KL et al. The Beaver Dam Eye Study: the relation of age‐related maculopathy to smoking. Am J Epidemiol 1993; 137: 190–200.
   PubMed Web of Science ®Google Scholar
• Seddon JM, Willet WC, Speizer FE et al. A prospective study of cigarette smoking and age‐related macular degeneration in women. JAMA 1996; 276: 1141–1146.
   PubMed Web of Science ®Google Scholar
• Christen WG, Glynn RJ, Manson JE et al. A prospective study of cigarette smoking and age‐related macular degeneration in men. JAMA 1996; 276: 1147–1151.
   PubMed Web of Science ®Google Scholar
• Klaver CCW, Assink JJM, Vingerling JR, Hofman A, de Jong PTVM. Smoking is also associated with age‐related macular degeneration in persons aged 85 years and older: The Rotterdam Study. Arch Ophthalmol 1997; 115:945.
   Google Scholar
• Freidman E. The role of the atherosclerotic process in the pathogenesis of age related macular degeneration. Am J Ophthalmol 2000; 130: 658–663.
   Web of Science ®Google Scholar
• Klien R, Clegg L, Cooper LS et al. Prevalence of age related maculopalhy in the atheroslcerosis risk in community study. Arch Ophthalmol 1999; 117: 1203–1210.
   Google Scholar
• Curcio CA, Millikan CL, Kruth HS. Cholesterol accumulates with age in human Bruch's membrane. Invest Ophthalmol Vis Sci 2000; 41 (Suppl): S115.
   Google Scholar
• Hyman LG, Lilienfeld AM, Ferris FL et al. Senile macular degeneration: a case control study. Am J Epidemiol 1983; 118: 213–227.
   PubMed Web of Science ®Google Scholar
• The Eye Disease Case‐Control Study Group: Risk factors for neovascular age‐related macular degeneration. Arch Ophthalmol 1992; 110: 1701–1708.
   PubMed Web of Science ®Google Scholar
• Vinding T, Appleyard M, Nyboe J. Risk factor analysis for atrophic and exudative age‐related macular degeneration. Acta Ophthalmol 1992; 70: 66–72.
   Web of Science ®Google Scholar
• West SK, Rosenthal FS, Bressler NM, et al. Exposure to sunlight and other risk factors for age‐related macular degeneration. Arch Ophthalmol 1989; 107: 875–879.
   PubMed Web of Science ®Google Scholar
• Kahn HA, Leibowitz HM, Ganley JP et al. The Framingham Eye Study II. Association of ophthalmic pathology with single variables previously measured in the Framingham Heart Study. Am J Epidemiol 1977; 106: 33–41.
   PubMed Web of Science ®Google Scholar
• Delaney WV, Oates RP. Senile macular degeneration: a preliminary study. Ann Ophthalmol 1982; 14: 21–24.
   PubMedGoogle Scholar
• Sperduto RD, Hiller R. Systemic hypertension and age‐related maculopathy in the Framingham Study. Arch Ophthalmol 1986; 104: 216–219.
   PubMedGoogle Scholar
• Vingerling JR, Dielemans I, Bots ML et al. Age‐related macular degeneration is associated with atherosclerosis: The Rotterdam Study. Am J Epidemiol 1995; 142: 404–409.
   PubMed Web of Science ®Google Scholar
• Klein R, Klein BEK, Jensen SC. The relationship of cardiovascular disease and its risk factors to the 5‐year incidence of age‐related maculopathy: the Beaver Dam Eye Study. Ophthalmology 1997; 104: 1804–1812.
   PubMed Web of Science ®Google Scholar
• Vingerling JR, Dielemans I, Witteman JCM et al. Is macular degeneration associated with early menopause BMJ 1995; 310: 1570–1571.
   PubMed Web of Science ®Google Scholar
• Seddon JM, Ajani UA, Mitchell BD. Familial aggregation of age‐related maculopathy. Am J Ophthalmol 1997; 123: 199–206.
   PubMed Web of Science ®Google Scholar
• Silvestri G, Johnston PB, Hughes AE. Is genetic predisposition an important risk factor in age‐related macular degenetation Eye 1994; 8: 564–568.
   PubMed Web of Science ®Google Scholar
• Piguet B, Wells JA, Palmvang IB et al. Age‐related Bruch's membrane change: A clinical study of the relative role of heredity and environment. Br J Ophthalmol 1993; 77: 400–403.
   Web of Science ®Google Scholar
• Klein ML, Mauldin WM, Stoumbos VD. Heredity and age‐related macular degeneration: Observations in monozygotic twins. Arch Ophthalmol 1994; 112: 932–937.
   PubMedGoogle Scholar
• Meyers SM, Greene T, Gutman FA. A twin study of age‐related macular degeneration. Am J Ophthalmol 1995; 120; 757–766.
   PubMed Web of Science ®Google Scholar
• Heiba IM, Elston RC, Klein BEK et al. Sibling correlations and segregation analysis of age‐related maculopathy: The Beaver Dam Eye Study. Genet Epidemiol 1994; 11: 51–67.
   PubMed Web of Science ®Google Scholar
• Samelson LJ, Lowe GS, Seddon JM. Comparison of information obtained by interview, clinical exam, and fundus photo: reporting and diagnosis of age related macular degeneration in elderly twins. Invest Ophthalmol Vis Sci 1998; 39: S601.
   Google Scholar
• Gass JDM. Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 1973; 90: 206–217.
   PubMedGoogle Scholar
• Klaver CCW, Wolfs RCW, Assink JJM, van Duijn CM, Hofman A, de Jong PTVM. Genetic risk of age‐related maculopathy. Population‐based familial aggregation study. Arch Ophthalmol 1998; 116: 1646–1651.
   PubMedGoogle Scholar
• Assink JJM. Age related maculopathy: a genetic and epidemiological approach. PhD thesis. Rotterdam: Print Partners Ipskamp.
   Google Scholar
• De la Paz MA, Pericak‐vance MA, Haines JL, Seddon JM. Phenotypic heterogeneity in families with age‐related macular degeneration. Am J Ophthalmol 1997; 124: 331–343.
   Web of Science ®Google Scholar
• Gorin MB, Breitner JCS, de Jong PTVM et al. The genetics of age related macular degeneration. Mol Vis 1999; 5: 29.
   PubMed Web of Science ®Google Scholar
• Klein ML, Schultz DW, Edwards A et al. Age‐related macular degeneration. Clinical features in a large family and linkage to chromosome Iq. Arch Ophthalmol 1998; 116: 1082–1088.
   PubMed Web of Science ®Google Scholar
• Week DE, Conley YP, Mah TS et al. A full genome scan for age‐related maculopathy. Hum Mol Gen 2000; 9: 1329–1349.
   Web of Science ®Google Scholar
• Sherman SL. Evolving methods in genetic epidemiology. IV Approaches to non‐Mendelian inheritance. Epidemiol Rev 1997; 19: 44–51.
   Web of Science ®Google Scholar
• Kaplan J, Gerber S, Larget‐piet D, Rozet JM, Dollfus H, Duffer JL, Odent S, Postel‐vinay A, Janin N, Briard ML et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993; 5: 308–311. Erratum in Nat Genet 1994; 6: 214.
   PubMed Web of Science ®Google Scholar
• Allikmets R, Singh N, Sun H et al. A pho‐toreceptor cell‐specific ATP‐binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997; 15: 236–246.
   PubMed Web of Science ®Google Scholar
• Cremers FPM, van de Pol TJR, van Driel M, Holander AI et al. Autosomal recessive retinitis pigmentosa and cone‐rod dystrophy caused by splice site mutations in the Stargardt disease gene ABCR. Hum Mol Genet 1998; 7: 355–362.
   PubMed Web of Science ®Google Scholar
• Martinez‐mir A, Paloma E, Allikmets R et al. Retinits pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 1998; 18: 11–12.
   PubMed Web of Science ®Google Scholar
• Rozet J‐M, Gerber S, Souied E et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 1998; 6: 291–295.
   PubMed Web of Science ®Google Scholar
• Allikmets R, Shroyer NF, Singh N et al. Mutation of the Stargardt disease gene (ABCR) in age‐related macular degeneration. Science 1997; 277: 1805–1807.
   PubMed Web of Science ®Google Scholar
• Klaver CCW, Assink JJM, Bergen AAB et al. ABCR gene and age‐related macular degeneration. Sci Online 1998; 279: 1107.
   Google Scholar
• Stone EM, Webster AR, Vandenburgh K et al. Allelic variation in ABCR associated with Stargardt but not with age‐related macular degeneration. Nat Genet 1998; 20: 328–329.
   PubMed Web of Science ®Google Scholar
• De la Paz MA, Abau‐donia S, Heinis R et al. Analysis of the Stargardt disease gene (ABCR) in age‐related macular degeneration. Ophthalmology 1999; 106: 153.
   Web of Science ®Google Scholar
• Guymer RH, Elise heon E, Andrew J, Lotery AJ et al. Variation of codons 1961 and 2177 of the ABCA4 gene is not associated with age‐related macular degeneration. Arch Ophthalmol 2001; 119: 745–751.
   PubMed Web of Science ®Google Scholar
• Dryja TP, Briggs CE, Berson EL et al. ABCR gene and age‐related macular degeneration. Sci Online 1998; 279: 1107.
   Google Scholar
• Zhang K, Kniazeva M, Han M et al. A 5‐pb deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat genet 2001; 27: 89–93.
   PubMed Web of Science ®Google Scholar
• Steen B, Sejersen S, Berglin L, Seregard S, Kvanta A. Matrix metalloproteinases and metalloproteinase inhibitors in choroidal neovascular membranes. Invest Ophthalmol Vis Sci 1998; 39: 2194–2200.
   PubMed Web of Science ®Google Scholar
• Weber BHF, Vogt G, Pruett RC, Stthr H, Felbor U. Mutations in the tissue inhibitor metalloproteinases‐3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994; 8; 352–356.
   PubMed Web of Science ®Google Scholar
• Sorsby A, Mason MEJ, Gardner N. A fundus dystrophy with unusual features. Br J Ophthalmol 1949; 33: 67–97.
   PubMed Web of Science ®Google Scholar
• Hoskin A, Sehmi K, Bird AC. Sorsby's pseudoinflammatory macular dystrophy. Br J Ophthalmol 1981; 65: 859–865.
   Web of Science ®Google Scholar
• De la Paz MA, Pericak‐vance MA, Lennon F, Haines JL, Seddon JM. Exclusion of TIMP‐3 as a candidate locus in age related macular degeneration. Invest Ophthalmol Vis Sci 1997; 38: 1060–1065.
   PubMed Web of Science ®Google Scholar
• Stone EM, Lotery AJ, Munier FL et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999; 22: 199–202.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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: 1531–1542.
   PubMedGoogle Scholar
• Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993; 3; 213–218.
   PubMed Web of Science ®Google Scholar
• Petrukhin K, Koisti MJ, Bakall B et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet 1998; 19: 241–247.
   PubMed Web of Science ®Google Scholar
• Lotery AJ, Munier FL et al. Al‐lelic variation in the VMD2 gene in Best disease and age related macular degeneration. Invest Ophthalmol Vis Sci 2000; 41: 1291–1296.
   PubMed Web of Science ®Google Scholar
• Allimets R, Seddon JM, Bernstein PS et al. Evaluation of the Best disease gene in patients with age‐related macular degeneration and other maculopathies. Hum genet 1999; 104: 449–453.
   Web of Science ®Google Scholar
• Morris JC, Storandt, McKeel et al. Cerebral amyloid deposition and diffuse plaques in abnormal aging: evidence for presymptomatic and very mild Alzheimer's disease. Neurology 1996; 46: 707–719.
   PubMed Web of Science ®Google Scholar
• Klaver CW, Ott A, Hofman A et al. Is age related maculopathy associated with Alzheimer's diseases Am J Epidemiol 1999; 150: 963–968.
   PubMed Web of Science ®Google Scholar
• Theuns J, Del‐favero J, Dermaut B et al. Genetic variability in the regulatory region of presenilin I associated with risk for Alzheimer's disease and variable expression. Hum Mol Gen 2000; 9; 325–331.
   Web of Science ®Google Scholar
• Pitas RE, Boyles JK, Lee SH, Hui DY, Weisgaber KH. Lipoproteins and their receptors in the central nervous system: characterization of the lipoproteins in cer‐ebrospinal fluid and identification of apolipoprotein B, E (LDL) receptors in the brain. J Biol Chem 1987; 262: 14352–14360.
   PubMed Web of Science ®Google Scholar
• Mahley RW, Apolipoproteine E. Cholesterol transport protein with expanding role in cell biology. Science 1988; 240: 622–630.
   PubMed Web of Science ®Google Scholar
• Strittmatter WJ, Saunders AM, Schmechel D et al. Apolipoprotein E; high avidity binding to beta‐amyloid and increased frequency of type 4 allele in late onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993; 90: 1977–1981.
   PubMed Web of Science ®Google Scholar
• Klaver CCW, Kliffen M, van Duijn CM, Hofman A, Cruts M, Grobbee DE, van Broeckhoven C, de Jong PTVM. Genetic association of apolipoprotein E with age‐related macular degeneration. Am J Hum Genet 1998; 63: 200–206.
   PubMed Web of Science ®Google Scholar
• Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Coscas G, Soubrane G. The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age‐related macular degeneration. Am J Ophthalmol 1998; 125: 353–359.
   PubMed Web of Science ®Google Scholar
• Schmidt S, Saunders AM, De La Paz MA et al. Association of the Alipoprotein E gene with age related macular degeneration: possible effect modification by family history, age and gender. Mol Vis 2000; 6: 287–293.
   PubMed Web of Science ®Google Scholar
• Meyer MR, Tschanz JT, Norton MC, Welsh‐bohmer KA, Steffens DC, Wyse BW, Breitner JC. APOE genotype predicts when, not whether, one is predisposed to develop Alzheimer disease. Nat Genet 1998; 19: 321–322.
   PubMed Web of Science ®Google Scholar
• Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak‐vance MA. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261: 921–923.
   PubMed Web of Science ®Google Scholar
• Amaratunga A, Abraham CR, Edwards RB et al. Apolipoprotein E is synthesized in the retina by Müller glial cells, secreted into the vitreous, and rapidly transported into the optic nerve by retinal ganglion cells. J Biol Chem. 1996; 271: 1805–1807.
   Web of Science ®Google Scholar
• Altshuler D, Daly M, Kruglyak L. Guilt by association. Nat Genet 2000; 26: 135–137.
   PubMed Web of Science ®Google Scholar