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Genes and Age-Related Macular Degeneration

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References

  • Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaran A Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR(1997a) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15: 236–246

    Article  PubMed  CAS  Google Scholar 

  • Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M (1997b) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805–1807

    Article  PubMed  CAS  Google Scholar 

  • Allikmets R, International ABCR Screening Consortium (2000) Further Evidence for an association of ABCR alleles with age-related macular degeneration. Am J Hum Genet 67: 487–491

    PubMed  CAS  Google Scholar 

  • Amaratunga A, Abraham CR, Edwards RB et al. (1996) Apolipoprotein E is synthesized in the retina by Muller glial cells, secreted into the vitreous, and rapidly transported into the optic nerve by retinal ganglion cells. J Biol Chem 271: 1805–1807

    Google Scholar 

  • Anderson DH, Ozaki S, Nealon M, Neitz J, Mullins RF, Hageman GS, Johnson LV (2001) Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. Am J Ophthalmol 131: 767–781

    Article  PubMed  CAS  Google Scholar 

  • Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R (2001) Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmol Genet 22(4): 233–239

    CAS  Google Scholar 

  • Baird PN, Guida E, Chu DT, Vu HT, Guymer RH (2004a) The ɛ2 and ɛ4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 45: 1311–1315

    Article  PubMed  Google Scholar 

  • Baird PN, Chu D, Guida E, Cain M, Vu HTV, Guymer RH (2004b) The Gln192Arg SNP of the Paraxonase gene (PON1) is associated with age-related macular degeneration. Am J Ophthalmol (in press)

    Google Scholar 

  • Chakravartic A (1999) Population genetics — making sense out of sequence. Nat Genet 21: 56–60

    Google Scholar 

  • Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late-onset families. Science 261(5123): 921–923

    PubMed  CAS  Google Scholar 

  • Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, Locke PA, Conneally PM, Schmader KE, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1994) Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease. Nat Genet 7(2): 180–184

    Article  PubMed  CAS  Google Scholar 

  • Crabb JW, Miyagi M, Gu X, Shadrach K, West KA, Sakaguchi H, Kamei M, Hasan A, Yan L, Rayborn ME, Salomon RG, Hollyfield JG (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration [comment]. Proc Natl Acad Sci USA 99(23): 14682–14687

    Article  PubMed  CAS  Google Scholar 

  • Cremers FP, Pol DJ van de, Driel M van, Hollander AI den, Haren FJ van, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB (1998) Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR. Hum Mol Genet 7(3): 355–362

    Article  PubMed  CAS  Google Scholar 

  • Davignon J, Cohn JS, Mabile L, Bernier L (1999) Apolipoprotein E and atherosclerosis: insight from animal and human studies. Clin Chim Acta 286: 115–143

    Article  PubMed  CAS  Google Scholar 

  • De la Paz MA, Pericak-Vance MA, Haines JL, Seddon JM (1997a) Phenotypic heterogeneity in families with age-related macular degeneration. Am J Ophthalmol 124(3): 331–343

    PubMed  Google Scholar 

  • De La Paz MA, Pericak-Vance MA, Lennon F, Haines JL, Seddon JM (1997b) Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 38(6): 1060–1065

    Google Scholar 

  • De la Paz MA, Abau-Donia S, Heinis R et al. (1999) Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology 106: 153

    Google Scholar 

  • Deutman AF, Jansen LMAA (1970) Dominantly inherited drusen of Bruch’s membrane. Br J Ophthalmol 34: 373–382

    Google Scholar 

  • Doyne RW (1899) Peculiar condition of choroiditis occuring in several members of the same family. Trans Ophthalmol Soc UK 19: 71–71

    Google Scholar 

  • Duker JS (1998) Retina and vitreous. In: Yanoff M, Duker JS (eds) Ophthalmology. Mosby, pp 8.1.1–8.48.4

    Google Scholar 

  • Edwards AO, Klein ML, Berselli CB, Hejtmancik JF, Rust K, Wirtz MK, Weleber RG, Acott TS (1998) Malattia Leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. Am J Ophthalmol 126: 417–424

    Article  PubMed  CAS  Google Scholar 

  • Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC (1997) Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol 115: 904–910

    PubMed  CAS  Google Scholar 

  • Felbor U, Schilling H, Weber BHF (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat 10: 301–309

    Article  PubMed  CAS  Google Scholar 

  • Gass JD (1973) Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 90: 206–217

    PubMed  CAS  Google Scholar 

  • Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM (1995) A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 102(2): 246–255

    PubMed  CAS  Google Scholar 

  • Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E (1999) Age related macular degeneration in monozygotic twins and their spouses in Iceland. Acta Ophthalmol Scand 77: 422–425

    Article  PubMed  CAS  Google Scholar 

  • Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N, Bird AC, Bhattacharya SS (1996) The gene responsible for autosomal dominant Doyne’s honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 5(7): 1055–1059

    Article  PubMed  CAS  Google Scholar 

  • Guymer RH, Heon E, Lotery AJ, Munier FL, Schorderet DF, Baird PN, McNeil RJ, Haines H, Sheffield VC, Stone EM (2001) Variation of codons 1961 and 2177 of the Stardardt disease gene is not associated with agerelated macular degeneration. Arch Ophthalmol 119: 745–751

    PubMed  CAS  Google Scholar 

  • Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN (2002) Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early-onset drusen or familial age-related macular degeneration. Clin Exp Ophthalmol 30: 419–423

    Article  Google Scholar 

  • Hamdi HK, Reznik J, Castellon R, Atilano SR, Ong JM, Udar N, Tavis JH, Aoki AM, Nesburn AB, Boyer DS, Small KW, Brown DJ, Kenney MC (2002) Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration. Biochem Biophys Res Commun 295(3): 668–672

    Article  PubMed  CAS  Google Scholar 

  • Hammond CJ, Webster AR, Snieder H, Bird AC, Gilbert CE, Spector TD (2002) Genetic influence on early age-related maculopathy: a twin study. Ophthalmology 109(4): 730–736

    Article  PubMed  Google Scholar 

  • Heiba IM, Elston RC, Klein BE, Klein R (1994) Sibling correlations and segregation analysis of age-related maculopathy: the Beaver Dam Eye Study. Genet Epidemiol 11: 51–67

    Article  PubMed  CAS  Google Scholar 

  • Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, Pescia G, Schorderet D, Taylor CM, Streb LM, Wiles CD, Nishimura DY, Sheffield VC, Stone EM (1996) Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16–21. Arch Ophthalmol 114(2): 193–198

    PubMed  CAS  Google Scholar 

  • Hutchinson J, Tay W (1875) Symmetrical central chorioretinal disease occurring in senile persons. R Lond Ophthalmol Hosp Rep 8: 231–44

    Google Scholar 

  • Hyman LG, Lilienfeld AM, Ferris FL 3rd, Fine SL (1983) Senile macular degeneration: a case-control study. Am J Epidemiol 118(2): 213–227

    PubMed  CAS  Google Scholar 

  • Ikeda T, Obayashi H, Hasegawa G, Nakamura N, Yoshikawa T, Imamura Y, Koizumi K, Kinoshita S (2001) Paraoxonase gene polymorphisms and plasma oxidized low-density lipoprotein level as possible risk factors for exudative age-related macular degeneration. Am J Ophthalmol 132(2): 191–195

    Article  PubMed  CAS  Google Scholar 

  • Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 level. Science 264(5165): 1604–1607

    PubMed  CAS  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. (1993) A gene for Stargardt’s disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 5: 308–311 (Erratum in Nat Genet 6: 214)

    Article  PubMed  CAS  Google Scholar 

  • Katsanis N, Venable S, Smith JR, Lupski JR (2000) Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Hum Genet 106(1): 66–72

    Article  PubMed  CAS  Google Scholar 

  • Keverline MR, Mah TS, Keverline PO, Gorin MB (1998) A practice-based survey of familial age-related maculopathy. Ophthalmol Genet 19(1): 19–26

    CAS  Google Scholar 

  • Kimura K, Isashiki Y, Sonoda S, Kakiuchi-Matsumoto T, Ohba N (2000) Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration. Am J Ophthalmol 130(6): 769–773

    Article  PubMed  CAS  Google Scholar 

  • Klainguti R (1932) Die Tapeto-retinal degeneration im Kanton Tessin. Klin Monatsbl Augenheilkd 89: 253–254

    Google Scholar 

  • Klaver CC, Wolfs RC, Assink JJ, Duijn CM van, Hofman A, Jong PT de (1998a) Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol 116(12): 1646–1651

    PubMed  CAS  Google Scholar 

  • Klaver CC, Kliffen M, Duijn CM van, Hofman A, Cruts M, Grobbee DE, Broeckhoven C van, Jong PT de (1998b) Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 63(1): 200–206

    Article  PubMed  CAS  Google Scholar 

  • Klaver CCW, Assink JJM, Bergen AAB, et al. (1998c) ABCR gene and age-related macular degeneration. Sci Online 279: 1107

    Google Scholar 

  • Klein BEK, Klein R, Lee KE, Moore EL, Danforth L (2001) Risk of incident age-related disease in people with an affected sibling: The Beaver Dam Eye Study. Am J Epidemiol 154: 207–211

    Article  PubMed  CAS  Google Scholar 

  • Klein ML, Mauldin WM, Stoumbos VD (1994) Heredity and age-related macular degeneration. Observations in monozygotic twins. Arch Ophthalmol 112(7): 932–937

    PubMed  CAS  Google Scholar 

  • Klein ML, Schultz DW, Edwards A, Matise TC, Rust K, Berselli CB, Trzupek K, Weleber RG, Ott J, Wirtz MK, Acott TS (1998) Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 116(8): 1082–1088

    PubMed  CAS  Google Scholar 

  • Lander E (1996) The new genomics: global views of biology. Science 274: 536–539

    Article  PubMed  CAS  Google Scholar 

  • Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11: 241–247

    Article  PubMed  CAS  Google Scholar 

  • Lecka-Czernik B, Lumpkin CK Jr, Goldstein S (1995) An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis. Mol Cell Biol 15(1): 120–128

    PubMed  CAS  Google Scholar 

  • Lotery AJ, Munier FL, Fishman GA, Weleber RG, Jacobson SG, Affatigato LM, Nichols BE, Schorderet DF, Sheffield VC, Stone EM (2000) Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci 41(6): 1291–1296

    PubMed  CAS  Google Scholar 

  • Mahley RW (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240(4852): 622–630

    PubMed  CAS  Google Scholar 

  • Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML (2003) Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet 73(3): 540–550

    PubMed  CAS  Google Scholar 

  • Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D et al. (2002) Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci USA 99: 13067–13072

    Article  PubMed  CAS  Google Scholar 

  • Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, Rio T del, Dean M, Vilageliu L, Gonzalez-Duarte R, Balcells S (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 18: 11–12

    PubMed  CAS  Google Scholar 

  • Melrose MA, Magargal LE, Lucier AC (1985) Identical twins with subretinal neovascularization complicating senile macular degeneration. Ophthalmol Surg 16: 648–651

    CAS  Google Scholar 

  • Meyer SM, Zachary AA (1988) Monozygotic twins with age-related macular degeneration. Arch Ophthalmol 106: 651–653

    Google Scholar 

  • Meyer SM, Greene T, Gutman FA (1995) A twin study of age-related macular degeneration. Am J Ophthalmol 120(6): 757–766

    Google Scholar 

  • Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM (1993) Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 3: 202–207

    Article  PubMed  CAS  Google Scholar 

  • Pang CP, Baum L, Chan WM, Lau TC, Poon PM, Lam DS (2000) The apolipoprotein E epsilon-4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese. Ophthalmologica 214(4): 289–291

    Article  PubMed  CAS  Google Scholar 

  • Pearce WG (1968) Doyne’s honeycomb retinal degeneration. Br J Ophthalmol 52: 73–78

    PubMed  CAS  Google Scholar 

  • Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M. Bergen AAB, McCarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C (1998) Identification of the gene responsible for Best macular dystrophy. Nat Genet 19: 241–247

    Article  PubMed  CAS  Google Scholar 

  • Piguet B, Wells JA, Palmvang IB, Wormald R, Chisholm IH, Bird AC (1993) Age-related Bruch’s membrane change: a clinical study of the relative role of heredity and environment. Br J Ophthalmol 77(7): 400–403

    PubMed  CAS  Google Scholar 

  • Piguet B, Haimovici R, Bird AC (1995) Dominantly inherited drusen represent more than one disorder: a historical review. Eye 9: 34–41

    PubMed  Google Scholar 

  • Rosenthal B, Thompson B (2003) Awareness of age-related macular degeneration in adults: the results of a large scale international survey. Optometry 74(1): 16–24

    PubMed  Google Scholar 

  • Schachter F, Faure-Delanef L, Guenot F, Rouger H, Froguel P, Lesueur-Ginot L, Cohen D (1994) Genetic associations with human longevity at the APOE and ACE loci. Nat Genet 6: 29–32

    PubMed  CAS  Google Scholar 

  • Schick JH, Iyengar SK, Klein BE, Klein R, Reading K, Liptak R, Millard C, Lee KE, Tomany SC, Moore EL, Fijal BA, Elston RC (2003) A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet 72(6): 1412–1424

    Article  PubMed  CAS  Google Scholar 

  • Schmidt S, Saunders AM, De La Paz MA, Postel EA, Heinis RM, Agarwal A, Scott WK, Gilbert JR, McDowell JG, Bazyk A, Gass DM, Haines JL, Pericak-Vance MA (2000) Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 6: 287–293

    PubMed  CAS  Google Scholar 

  • Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, Jong PT de, Duijn C van, Haines J, Pericak-Vance M, Gorin M (2002) A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmol Genet 23(4): 209–223

    Google Scholar 

  • Schultz DW, Klein ML, Humpert A, Majewski J, Schain M, Weleber RG, Ott J, Acott TS (2003a) Lack of an association of the apolipoprotein E gene with familial age-related macular degeneration. Arch Ophthalmol 121(5): 679–683

    Article  PubMed  CAS  Google Scholar 

  • Schultz DW, Humpert AJ, Luzier CW, Persun V, Schain M, Weleber RG, Acott TS, Klein ML (2003b) Evidence that FIBL-6 is the ARMD1 Gene. Invest Ophthalmol Vis Sci (ARVO abstract 2017)

    Google Scholar 

  • Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 123(2): 199–120

    PubMed  CAS  Google Scholar 

  • Shastry BS, Trese MT (1999) Evaluation of the peripherin/RDS gene as a candidate-gene in families with age-related macular degeneration. Ophthalmologica 213(3): 165–170

    Article  PubMed  CAS  Google Scholar 

  • Silvestri G, Johnston PB, Hughes AE (1994) Is genetic predisposition an important risk factor in age-related macular degeneration? Eye 8(5): 564–568

    PubMed  Google Scholar 

  • Souied EH, Benlian P, Amouyel P, Feingold J, Lagarde JP, Munnich A, Kaplan J, Coscas G, Soubrane G (1998) The epsilon-4 allele of the apolipoprotein E gene as a potential protective factor with age-related macular degeneration. Am J Ophthalmol 125: 353–359

    PubMed  CAS  Google Scholar 

  • Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield VC (1998) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 20: 328–329

    Article  PubMed  CAS  Google Scholar 

  • Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, Vandernburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF (1999) A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 22: 199–202

    Article  PubMed  CAS  Google Scholar 

  • Stone EM, Sheffield VC, Hageman GS (2001) Molecular genetics of age-related macular degeneration. Hum Mol Genet 10(20): 2285–2292

    Article  PubMed  CAS  Google Scholar 

  • Stone EM, Russell TA, Kuehn MH, Lotery AJ, Moore PA, Eastman CG, Casavant TL, Sheffield VC (2004) Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration. The New England Journal of Medicine 351: 346–353

    PubMed  CAS  Google Scholar 

  • Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD (1993) 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 90: 1977–1981

    PubMed  CAS  Google Scholar 

  • The International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921

    Google Scholar 

  • Toto L, Parodi MB, Baralle F et al. (2002) Genetic heterogeneity in Malattia Leventinese. Clin Genet 62: 399–403

    Article  PubMed  CAS  Google Scholar 

  • Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG (1989) Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (RDS). Nature 338: 70–73

    Article  PubMed  CAS  Google Scholar 

  • Weber BHF, Vogt G, Pruett RC, Stthr H, Felbor U (1994) Mutations in the tissue inhibitor metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet 8: 352–356

    Article  PubMed  CAS  Google Scholar 

  • Webster AR, Heon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM (2001) An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 42(6): 1179–1189

    PubMed  CAS  Google Scholar 

  • Weeks DE, Conley YP, Mah TS, Paul TO, Morse L, Ngo-Chang J, Dailey JP, Ferrell RE, Gorin MB (2000) A full genome scan for age-related maculopathy. Hum Mol Genet 9(9): 1329–1349

    Article  PubMed  CAS  Google Scholar 

  • Weeks DE, Conley YP, Tsai HJ, Mah TS, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB (2001) Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol 132(5): 682–692

    Article  PubMed  CAS  Google Scholar 

  • Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM (1993) 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 111: 1531–1542

    PubMed  CAS  Google Scholar 

  • Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3: 213–218

    Article  PubMed  CAS  Google Scholar 

  • Wroblewski JJ, Wells JA 3rd, Eckstein A, et al. (1994) Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene. Ophthalmology 101(1): 12–22

    PubMed  CAS  Google Scholar 

  • Yoshida S, Yashar BM, Hiriyanna S, Swaroop A (2002) Microarray analysis of gene expression in the aging human retina. Invest Ophthalmol Vis Sci 43: 2554–2560

    PubMed  Google Scholar 

  • Zhang K, Kniazeva M, Han M, et al. (2001) A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 27: 89–93

    PubMed  CAS  Google Scholar 

  • Zurdel J, Finckh U, Menzer G, Nitsch RM, Richard G (2002) CST3 genotype associated with exudative age related macular degeneration. Br J Ophthalmol 86(2): 214–219

    Article  PubMed  Google Scholar 

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Guymer, R.H., Narendran, N., Baird, P.N. (2005). Genes and Age-Related Macular Degeneration. In: Penfold, P.L., Provis, J.M. (eds) Macular Degeneration. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26977-0_4

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