Genetic influence on early age-related maculopathy
Open accessAbstract
Objective Age-related macular degeneration (AMD) is the most common cause of blindness in industrialized countries. There has been considerable interest in the genetics of early age-related maculopathy (ARM) and AMD, because they have phenotypes similar to inherited diseases where mutations have been identified, but the heritability of ARM and AMD is unknown.Design A classical twin study was performed to compare the concordance in monozygotic (MZ) and dizygotic (DZ) twins in an unselected sample of female volunteer twins.Participants Five hundred six twin pairs, 226 MZ and 280 DZ, with a mean age of 62 years, were examined.Methods ARM was graded from stereoscopic macular photographs of 501 of the twin pairs (99%) according to the International ARM Epidemiologic Study Group grading system. The casewise concordance was calculated for twin pairs from 2 x 2 contingency tables of affected/unaffected twins, and these tables were used in maximum likelihood genetic modeling to estimate the heritabilities of phenotypes graded.Main outcome measures Prevalence of ARM; concordance in MZ and DZ twins of the phenotypes of ARM, soft drusen >63 microm and > or =125 microm diameter, pigmentary changes and hard drusen (<20 and > or =20 in number); heritability of ARM and subphenotypes.Results The overall prevalence of ARM was 14.6% (95% confidence interval [CI], 12.4%-16.8%). The concordance for ARM in MZ twins was 0.37 compared with 0.19 in DZ twins, suggesting a role for genes. Modeling confirmed a genetic effect for phenotypes of ARM, soft drusen, pigmentary changes, and > or =20 hard drusen, although there was little genetic effect for scattered (<20) hard drusen. The heritability of ARM was estimated as 45% (95% CI, 35%-53%). The most heritable phenotypes were soft drusen > or =125 microm (57%) and > or =20 hard drusen (81%), with the latter being dominantly inherited.Conclusions This study confirms a significant genetic influence in ARM and suggests that future genetic studies should examine phenotypes of large (> or =125 microm) soft drusen and > or =20 hard drusen, because these seem to be the most heritable components.
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Significant genetic influence in early AMD has been demonstrated in a classical twin study, with soft drusen and multiple hard drusen showing heritability of 57% and 81%, respectively.
“Significant genetic influence in early AMD has been demonstrated in a classical twin study comparing concordance of 226 monozygotic and 280 dizygotic twin pairs, with soft drusen and multiple hard drusen showing strong genetic influences with heritability of 57% and 81%, respectively [36].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [36]
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Cites
Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447 · see citing works
Practical Statistics for Medical Research.
Walter, S., & Altman, D. G. (1992) · Biometrics · doi:10.2307/2532320 · Cited by 11,665 · see citing works
Lichtenstein, P., Holm, N. V., Verkasalo, P. K., Iliadou, A., Kaprio, J., Koskenvuo, M., Pukkala, E., Skytthe, A., & Hemminki, K. (2000) · New England Journal of Medicine · doi:10.1056/nejm200007133430201 · Cited by 4,114 · see citing works
Methodology for Genetic Studies of Twins and Families
Neale, M. C., & Cardon, L. R. (1992) · doi:10.1007/978-94-015-8018-2 · Cited by 4,005 · see citing works
Bird, A. C., Bressler, N. M., Bressler, S. B., Chisholm, I. H., Coscas, G., Davis, M. D., de Jong, P. T. V. M., Klaver, C. C. W., Klein, B. E. K., Klein, R., et al. (1995) · Survey of Ophthalmology · doi:10.1016/s0039-6257(05)80092-x · Cited by 1,926 · see citing works
Self-citationPrevalence of age-related maculopathy
Klein, R., Klein, B. E. K., & Linton, K. L. P. (1992) · Ophthalmology · doi:10.1016/s0161-6420(92)31871-8 · Cited by 1,845 · see citing works
Introduction to Quantitative Genetics
Byrd, W. P. (1961) · Agronomy Journal · doi:10.2134/agronj1961.00021962005300010026x · Cited by 1,583 · see citing works
PRACTICAL STATISTICS FOR MEDICAL RESEARCH
Ludbrook, J. (1991) · Australian and New Zealand Journal of Surgery · doi:10.1111/j.1445-2197.1991.tb00019.x · Cited by 1,219 · see citing works
The Wisconsin Age-related Maculopathy Grading System
Klein, R., Davis, M. D., Magli, Y. L., Segał, P., Klein, R., & Hubbard, L. D. (1991) · Ophthalmology · doi:10.1016/s0161-6420(91)32186-9 · Cited by 1,188 · see citing works
Prevalence of age-related maculopathy in Australia
Mitchell, P., Smith, W., Attebo, K., & Wang, J. J. (1995) · Ophthalmology · doi:10.1016/s0161-6420(95)30846-9 · Cited by 1,062 · see citing works
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
Allikmets, R. L., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A. A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 879 · see citing works
A twin-pronged attack on complex traits
Martin, N., Boomsma, D., & Machin, G. (1997) · Nature Genetics · doi:10.1038/ng1297-387 · Cited by 685 · see citing works
Senile macular degeneration: a case-control study
HYMAN, L. G., LILIENFELD, A. M., FERRIS, F. L., & FINE, S. L. (1983) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a113629 · Cited by 587 · see citing works
Stone, E. M., Lotery, A. J., Munier, F. L., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D. Y., Swiderski, R. E., et al. (1999) · Nature Genetics · doi:10.1038/9722 · Cited by 488 · see citing works
Self-citationAndrew, T., Hart, D. J., Snieder, H., de Lange, M., Spector, T. D., & MacGregor, A. J. (2001) · Twin Research · doi:10.1375/1369052012803 · Cited by 440 · see citing works
Self-citationFamilial aggregation of age-related maculopathy
SEDDON, J. M., AJANI, U. A., & MITCHELL, B. D. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71036-0 · Cited by 350 · see citing works
Rivera, A., White, K., Stöhr, H., Steiner, K., Hemmrich, N., Grimm, T., Jurklies, B., Lorenz, B., Scholl, H. P. N., Apfelstedt-Sylla, E., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303090 · Cited by 340 · see citing works
The power of the classical twin study to resolve variation in threshold traits
Neale, M., Eaves, L., & Kendler, K. (1994) · Behavior Genetics · doi:10.1007/bf01067191 · Cited by 328 · see citing works
Genetic Risk of Age-related Maculopathy: Population-Based Familial Aggregation Study
Klaver, C. C. W. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.12.1646 · Cited by 323 · see citing works
Familial Aggregation of Age-related Maculopathy
Seddon, J. M., Ajani, U. A., & Mitchell, B. (1998) · Retina · doi:10.1097/00006982-199818020-00028 · Cited by 303 · see citing works
Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study
Heiba, I. M., Elston, R. C., Klein, B. E. K., & Klein, R. (1994) · Genetic Epidemiology · doi:10.1002/gepi.1370110106 · Cited by 259 · see citing works
A Twin Study of Age-related Macular Degeneration
Meyers, S. M., Greene, T., & Gutman, F. A. (1995) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)72729-1 · Cited by 210 · see citing works
Heredity and Age-Related Macular Degeneration: Observations in Monozygotic Twins
Klein, M. L. (1994) · Archives of Ophthalmology · doi:10.1001/archopht.1994.01090190080025 · Cited by 207 · see citing works
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
Stone, E. M., Webster, A. R., Vandenburgh, K., Streb, L. M., Hockey, R. R., Lotery, A. J., & Sheffield, V. C. (1998) · Nature Genetics · doi:10.1038/3798 · Cited by 197 · see citing works
Self-citationIs the incidence of registrable age-related macular degeneration increasing?
Evans, J., & Wormald, R. (1996) · British Journal of Ophthalmology · doi:10.1136/bjo.80.1.9 · Cited by 197 · see citing works
Martin, N. G., & Martin, P. G. (1975) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1975.tb00124.x · Cited by 193 · see citing works
Advances in Twin and Sib-Pair Analysis.
Cherny, S. S. (2001) · The American Journal of Human Genetics · doi:10.1086/322935 · Cited by 166 · see citing works
Is genetic predisposition an important risk factor in age-related macular degeneration?
Silvestri, G., Johnston, P. B., & Hughes, A. E. (1994) · Eye · doi:10.1038/eye.1994.138 · Cited by 142 · see citing works
Twin registers in Europe: an overview
Boomsma, D. I. (1998) · Twin Research · doi:10.1375/136905298320566465 · Cited by 141 · see citing works
Senile macular degeneration. Clinicopathologic correlations of a case in the predisciform stage.
Frank, R. N., Green, W. R., & Pollack, I. P. (1973) · PubMed · Cited by 134 · see citing works
Determination of Twin Zygosity: A Comparison of DNA with Various Questionnaire Indices
Jackson, R. W., Snieder, H., Davis, H., & Treiber, F. A. (2001) · Twin Research · doi:10.1375/1369052012092 · Cited by 106 · see citing works
Self-citationGenetic susceptibility to age related macular degeneration
Yates, J., & Moore, A. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.2.83 · Cited by 99 · see citing works
Age related macular degeneration in monozygotic twins and their spouses in Iceland
Gottfreðsdóttir, M. S., Sverrisson, T., Musch, D. C., & Stefánsson, E. (1999) · Acta Ophthalmologica Scandinavica · doi:10.1034/j.1600-0420.1999.770413.x · Cited by 72 · see citing works
Generalisability and assumptions of twin studies
Kyvik, K. O. (2000) · Medical Entomology and Zoology · Cited by 71 · see citing works
Monozygotic Twins With Age-Related Macular Degeneration
Meyers, S. M., & Zachary, A. A. (1988) · Archives of Ophthalmology · doi:10.1001/archopht.1988.01060130705029 · Cited by 69 · see citing works
A twin study on age-related macular degeneration.
Meyers, S. M. (1994) · Europe PMC (PubMed Central) · Cited by 68 · see citing works
Identical Twins With Subretinal Neovascularization Complicating Senile Macular Degeneration
Melrose, M. A., Magargal, L. E., & Lucier, A. C. (1985) · Ophthalmic surgery, lasers & imaging retina · doi:10.3928/1542-8877-19851001-13 · Cited by 36 · see citing works
Monozygotic Twin Brothers with Age-Related Macular Degeneration
Dosso, A., & Bovet, J. (2010) · Ophthalmologica · doi:10.1159/000310307 · Cited by 35 · see citing works
Eye findings in twins reared apart
Knobloch, W. H., Leavenworth, N. M., Bouchard, T. J., & Eckert, E. D. (1985) · Ophthalmic Paediatrics and Genetics · doi:10.3109/13816818509007856 · Cited by 19 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Evans J, Rooney C, Ashwood F, et al. Blindness and partial sight in England and Wales: April 1990 -March 1991. Health Trends 1996;28:5-12.
- Andrew T, Hart D, Snieder H, et al. A comparison of disease, anthropometric and lifestyle characteristics in twin and sin- gleton datasets. Twin Res 2001;4:464 -77.
Cited by
Sorted by citations
Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424 · see citing works
Age-related macular degeneration
Jager, R. D., Mieler, W. F., & Miller, J. W. (2008) · New England Journal of Medicine · doi:10.1056/nejmra0801537 · Cited by 1,379 · see citing works
Current concepts in the pathogenesis of age-related macular degeneration
Zarbin, M. A. (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.4.598 · Cited by 1,006 · see citing works
Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies
Ambati, J., Ambati, B. K., Yoo, S. H., Ianchulev, S., & Adamis, A. P. (2003) · Survey of Ophthalmology · doi:10.1016/s0039-6257(03)00030-4 · Cited by 959 · see citing works
Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts
Gehrs, K. M., Anderson, D. H., Johnson, L. V., & Hageman, G. S. (2006) · Annals of Medicine · doi:10.1080/07853890600946724 · Cited by 633 · see citing works
“Twin studies also support a genetic basis for the disease, with the concordance of clinical features (drusen and pigmentary changes) for both early and late onset disease being approximately twice as high in monozygotic (identical) twins compared to dizygotic (nonidentical) twins (199,200).”
ResultAge-Related Macular Degeneration: Genetics and Biology Coming Together
Fritsche, L. G., Fariss, R. N., Stambolian, D. E., Abecasis, G. R., Curcio, C. A., & Swaroop, A. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025610 · Cited by 537 · see citing works
“Support for a genetic contribution is incontrovertible and comes from both classical epidemiological and twin studies (38, 50, 51, 68, 87) and gene-mapping studies.”
BackgroundSeddon, J. M. (2005) · Archives of Ophthalmology · doi:10.1001/archopht.123.3.321 · Cited by 446 · see citing works
Age-Related Macular Degeneration Preferred Practice Pattern®
Flaxel, C. J., Adelman, R. A., Bailey, S. T., Fawzi, A. A., Lim, J. I., Vemulakonda, G. A., & Ying, G. (2019) · Ophthalmology · doi:10.1016/j.ophtha.2019.09.024 · Cited by 353 · see citing works
“Molecular genetic studies and epidemiologic studies have determined some of the genetic factors 33 in AMD.(82-88) Several studies published in 2005 identified a str ong association of the complement 34 factor H (CFH) Y402H polymorphism with a higher ris k of AMD.”
BackgroundAge‐related Macular Degeneration (AMD)
(2008) · Springer eBooks · doi:10.1007/978-3-540-38918-7_5059 · Cited by 322 · see citing works
The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date
Haddad, S., Chen, C. A., Santangelo, S. L., & Seddon, J. M. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.05.001 · Cited by 299 · see citing works
Transplantation of the RPE in AMD
Binder, S., Stanzel, B. V., Krebs, I., & Glittenberg, C. G. (2007) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2007.02.002 · Cited by 292 · see citing works
Krebs, I., Brannath, W., Glittenberg, C. G., Zeiler, F., Sebag, J., & Binder, S. (2007) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2007.07.024 · Cited by 252 · see citing works
A new perspective on lipid research in age-related macular degeneration
van Leeuwen, E. M., Emri, E., Merle, B. M. J., Colijn, J. M., Kersten, E., Cougnard-Gregoire, A., Dammeier, S., Meester-Smoor, M., Pool, F. M., de Jong, E. K., et al. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.04.006 · Cited by 247 · see citing works
“The evidence for a genetic contribution to the development of AMD comes from epidemiological twin studies (Hammond et al., 2002; Klein et al., 1994, 2001a; Meyers et al., 1995; Seddon et al., 1997), familybased linkage studies (Klein et al.”
BackgroundMeta-analysis of genome scans of age-related macular degeneration
Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi230 · Cited by 239 · see citing works
“In these, non-parametric Sall LOD scores were obtained from ALLEGRO (51) and can therefore be converted to P-values where 2 ln(10) LOD x(2)(1).”
MethodCFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
Magnusson, K. P., Duan, S., Sigurdsson, H., Petursson, H., Yang, Z., Zhao, Y., Bernstein, P. S., Ge, J., Jonasson, F., Stefansson, E., et al. (2005) · PLoS Medicine · doi:10.1371/journal.pmed.0030005 · Cited by 226 · see citing works
“Significant genetic influence in early AMD has been demonstrated in a classical twin study comparing concordance of 226 monozygotic and 280 dizygotic twin pairs, with soft drusen and multiple hard drusen showing strong genetic influences with heritability of 57% and 81%, respectively [36].”
BackgroundThakkinstian, A., Han, P., McEvoy, M., Smith, W. T., Hoh, J. J., Magnússon, K. P., Zhang, K., & Attia, J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl220 · Cited by 224 · see citing works
Seddon, J. M., Santangelo, S. L., Book, K., Chong, S., & Cote, J. (2003) · The American Journal of Human Genetics · doi:10.1086/378505 · Cited by 208 · see citing works
Geerlings, M. J., de Jong, E. K., & den Hollander, A. I. (2016) · Molecular Immunology · doi:10.1016/j.molimm.2016.11.016 · Cited by 202 · see citing works
“Twin studies observed a high concorance of AMD between monozygotic pairs, even double compared o dizygotic pairs, and estimated that the heritability of AMD may e as high as 45 to 70% (Hammond et al., 2002; Meyers et al., 995; Seddon et al., 2005).”
BackgroundHaines, J. L., Schnetz-Boutaud, N., Schmidt, S., Scott, W. K., Agarwal, A., Postel, E. A., Olson, L., Kenealy, S. J., Hauser, M., Gilbert, J. R., et al. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-0116 · Cited by 189 · see citing works
Nature and nurture- genes and environment- predict onset and progression of macular degeneration
Sobrin, L., & Seddon, J. M. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2013.12.004 · Cited by 178 · see citing works
“19 in dizygotic twins with a heritability estimate for early AMD of about 45% (Hammond et al., 2002).”
InfluentialThe Heritability of Ocular Traits
Sanfilippo, P. G., Hewitt, A. W., Hammond, C. J., & Mackey, D. A. (2010) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2010.07.003 · Cited by 176 · see citing works
Self-citationSwaroop, A., Branham, K. E., Chen, W., & Abecasis, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm212 · Cited by 173 · see citing works
Iyengar, S. K., Song, D., Klein, B. E. K., Klein, R., Schick, J. H., Humphrey, J., Millard, C., Liptak, R., Russo, K., Jun, G., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/380912 · Cited by 173 · see citing works
“Several lines of evidence have convincingly established the importance of genetic factors in the etiology of ARMD, including twin (Hammond et al. 2002) and family studies (Keverline et al.”
BackgroundInfluentialHypomethylation of the IL17RC Promoter Associates with Age-Related Macular Degeneration
Wei, L., Liu, B., Tuo, J., Shen, D., Chen, P., Li, Z., Liu, X., Ni, J., Dagur, P., Sen, H. N., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.10.013 · Cited by 167 · see citing works
Grisanti, S., & Tatar, O. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.002 · Cited by 163 · see citing works
“Genetic predisposition (Klaver et al., 1998; Meyers et al., 1995; Hammond et al., 2002; Tuo et al., 2004; Traboulsi, 2005), dietary and environmental risk factors contribute to the development of the disease, but changes due to aging may well be the initial stimulus (Zarbin, 2004).”
BackgroundGenetics of age-related macular degeneration (AMD)
DeAngelis, M. M., Owen, L. A., Morrison, M. A., Morgan, D. J., Li, M., Shakoor, A., Vitale, A. T., Iyengar, S. K., Stambolian, D., Kim, I. K., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx228 · Cited by 165 · see citing works
“(12) as well as studies demonstrating clustering of AMD in families, a hallmark of a disease with complex inheritance, were the first to underscore the genetic basis for AMD (13,14).”
Complement factor H in AMD: Bridging genetic associations and pathobiology
Toomey, C. B., Johnson, L. V., & Rickman, C. B. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.09.001 · Cited by 160 · see citing works
“…genetic susceptibility in patients with AMD in 1972 (Gass, 1972), twin and population-based familial aggregation studies provided some of the earliest evidence of genetic susceptibility in AMD (Hammond et al., 2002; Klein et al., 2001; Klein et al., 1994; Meyers et al., 1995; Seddon et al., 1997).”
BackgroundConley, Y. P., Thalamuthu, A., Jakobsdottir, J., Weeks, D. E., Mah, T., Ferrell, R. E., & Gorin, M. B. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi204 · Cited by 158 · see citing works
“Genetic susceptibility plays a role in ARM etiology with heritability estimates 45% (2).”
BackgroundA pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy
Schmidt, S., Klaver, C. C. W., Saunders, A. M., Postel, E. A., De La Paz, M. A., Agarwal, A., Small, K. W., Udar, N., Ong, J. M., Chalukya, M. V., et al. (2002) · Ophthalmic Genetics · doi:10.1076/opge.23.4.209.13883 · Cited by 149 · see citing works
Age-related Macular Degeneration: Genetic and Environmental Factors of Disease
Chen, Y., Bedell, M., & Zhang, K. (2010) · Molecular Interventions · doi:10.1124/mi.10.5.4 · Cited by 139 · see citing works
Gemenetzi, M. K., Lotery, A. J., & Patel, P. J. (2016) · Eye · doi:10.1038/eye.2016.208 · Cited by 129 · see citing works
Holliday, E. G., Smith, A. V., Cornes, B. K., Buitendijk, G. H. S., Jensen, R. A., Sim, X., Aspelund, T., Aung, T., Baird, P. N., Boerwinkle, E., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053830 · Cited by 126 · see citing works
“45 for early AMD [8], but 0.”
Seddon, J. M., Reynolds, R. C., Shah, H. R., & ROSNER, B. A. (2011) · Ophthalmology · doi:10.1016/j.ophtha.2010.12.020 · Cited by 115 · see citing works
Canter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002091 · Cited by 110 · see citing works
“Each of these processes has been implicated in the pathogenesis of AMD.”
BackgroundInfluentialThe Prevalence of Age-Related Maculopathy in Iceland: Reykjavik Eye Study
Jonasson, F. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.3.379 · Cited by 106 · see citing works
The Epidemiology of Age-Related Macular Degeneration
Seddon, J. M., & Chen, C. A. (2004) · International Ophthalmology Clinics · doi:10.1097/00004397-200404440-00004 · Cited by 106 · see citing works
Zipfel, P. F., Lauer, N., & Skerka, C. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-5635-4_2 · Cited by 99 · see citing works
“Population based analyses, twin studies (Hammond et al. 2002; Seddon et al. 2005) and familial aggregation analyses (Seddon et al.”
BackgroundThe molecular genetic basis of age-related macular degeneration: an overview
Katta, S., Kaur, I., & Chakrabarti, S. (2009) · Journal of Genetics · doi:10.1007/s12041-009-0064-4 · Cited by 96 · see citing works
Genetics of age-related macular degeneration: current concepts, future directions
DeAngelis, M. M., Silveira, A. C., Carr, E. A., & Kim, I. K. (2011) · Seminars in Ophthalmology · doi:10.3109/08820538.2011.577129 · Cited by 94 · see citing works
A survey on computer aided diagnosis for ocular diseases
Zhang, Z., Srivastava, R., Liu, H., Chen, X., Duan, L., Wong, D. W. K., Kwoh, C. K., Wong, T. Y., & Liu, J. (2014) · BMC Medical Informatics and Decision Making · doi:10.1186/1472-6947-14-80 · Cited by 92 · see citing works
“Disease/Traits Heritability value Source AMD 0.7 [207] AMD 0.75 [208] AMD 0.71 [209] AMD 0.46-0.71 [210] AMD 0.45 [211] AMD (small hard drusen) 0.63 [212] CCT 0.95 [213] CCT 0.72 [214] CDR 0.48 [215] CDR 0.66 [214] Corneal astigmatism 0.6 [216] Corneal curvature 0.71 [216] Cortical cataract 0.24…”
BackgroundInfluentialAge-related macular degeneration: The importance of family history as a risk factor
Shahid, H., Khan, J. C., Cipriani, V., Sepp, T., Matharu, B. K., Bunce, C., Harding, S. P., Clayton, D. G., Moore, A. T., Yates, J. R. W., et al. (2012) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2011-300193 · Cited by 84 · see citing works
Francis, P. J., George, S., Schultz, D. W., Rosner, B., Hamon, S., Ott, J., Weleber, R. G., Klein, M. L., & Seddon, J. M. (2007) · Human Heredity · doi:10.1159/000100046 · Cited by 91 · see citing works
Ranibizumab Therapy for Neovascular Age-Related Macular Degeneration
Folk, J. C., & Stone, E. M. (2010) · New England Journal of Medicine · doi:10.1056/nejmct1000495 · Cited by 88 · see citing works
Mettu, P. S., Wielgus, A. R., Ong, S. S. Y., & Cousins, S. W. (2012) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2012.04.006 · Cited by 90 · see citing works
Bonnel, S., Mohand-Said, S., & Sahel, J.-A. (2003) · Experimental Gerontology · doi:10.1016/s0531-5565(03)00093-7 · Cited by 89 · see citing works
“Results from epidemiological research and twin studies propose a primarily polygenic etiology for AMD [68, 69].”
BackgroundThakkinstian, A., Bowe, S. J., McEvoy, M., Smith, W. T., & Attia, J. (2006) · American Journal of Epidemiology · doi:10.1093/aje/kwj279 · Cited by 87 · see citing works
“There also appears to be a genetic component, as supported by a number of lines of evidence: familial aggregation (10–13), segregation analysis (14, 15), twin studies (10, 16, 17), and several linkage studies (18–24) culminating in a meta-analysis (25).”
Association of neovascular age-related macular degeneration and hyperhomocysteinemia
Axer‐Siegel, R., Bourla, D. H., Ehrlich, R., Dotan, G., Benjamini, Y., Gavendo, S., Weinberger, D., & Sela, B. (2003) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(03)00864-x · Cited by 84 · see citing works
Kaur, I., Hussain, A., Hussain, N., Das, T., Pathangay, A., Mathai, A., Hussain, A., Nutheti, R., Nirmalan, P. K., & Chakrabarti, S. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-1430 · Cited by 84 · see citing works
HTRA1 Variants in Exudative Age-Related Macular Degeneration and Interactions with Smoking and CFH
Tam, P. O. S., Ng, T. K., Liu, D. T. L., Chan, W. M., Chiang, S. W. Y., Chen, L. J., DeWan, A. T., Hoh, J. J., Lam, D. S. C., & Pang, C. P. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1520 · Cited by 84 · see citing works
Gene–environment interactions in ocular diseases
Saccà, S. C., Bolognesi, C., Battistella, A., Bagnis, A., & Izzotti, A. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.11.002 · Cited by 84 · see citing works
Ethnic Differences in Macular Pigment Density and Distribution
Wolf, S., Röösli, N., Weyermann, E., Heldner, M. R., ̈hne, K. H., & Wolf, S. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1218 · Cited by 82 · see citing works
Heritability of Macular Pigment: A Twin Study
Liew, S. H. M., Gilbert, C. E., Spector, T. D., Mellerio, J., Marshall, J., Kuijk, F. J. V., Beatty, S., Fitzke, F. W., & Hammond, C. J. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0519 · Cited by 79 · see citing works
Self-citationAssociation of HLA Class I and Class II Polymorphisms with Age-Related Macular Degeneration
Goverdhan, S. V., Howell, M. W., Mullins, R. F., Osmond, C., Hodgkins, P. R., Self, J., Avery, K., & Lotery, A. J. (2005) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.04-0928 · Cited by 78 · see citing works
AMD and the alternative complement pathway: genetics and functional implications
Tan, P. L., Rickman, C. B., & Katsanis, N. (2016) · Human Genomics · doi:10.1186/s40246-016-0079-x · Cited by 79 · see citing works
“In addition, family- and population-based studies have also highlighted that AMD carries a significant genetic burden, demonstrating >45 % concordance found in monozygotic and dizygotic twins as well as a recurrence-risk ratio between three to six times greater in siblings than in the general population [41–46].”
BackgroundAnalysis of the Y402H Variant of the Complement Factor H Gene in Age-Related Macular Degeneration
Baird, P. N., Islam, A. F. M., Richardson, A. J., Cain, M. S., Hunt, N. C., & Guymer, R. H. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1285 · Cited by 73 · see citing works
Sauer, L., Gensure, R. H., Andersen, K. M., Kreilkamp, L., Hageman, G. S., Hammer, M., & Bernstein, P. S. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-23764 · Cited by 73 · see citing works
Age-Related Macular Degeneration: Insights into Inflammatory Genes
Cascella, R., Ragazzo, M., Strafella, C., Missiroli, F., Borgiani, P., Angelucci, F., Marsella, L., Cusumano, A., Novelli, G., Ricci, F., et al. (2014) · Journal of Ophthalmology · doi:10.1155/2014/582842 · Cited by 72 · see citing works
Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W. L., Yu, M., Shi, L.-Y., Rowe, L. B., Collin, G. B., Charette, J. R., Letteboer, S. J. F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3474 · Cited by 72 · see citing works
Age-related macular degeneration: a target for nanotechnology derived medicines
Birch, D. G., & Liang, F.-Q. (2007) · International Journal of Nanomedicine · doi:10.2147/nano.2007.2.1.65 · Cited by 72 · see citing works
Progress in defining the molecular biology of age related macular degeneration
Lotery, A. J., & Trump, D. (2007) · Human Genetics · doi:10.1007/s00439-007-0406-3 · Cited by 70 · see citing works
“These studies consistently show a greater than 90% concordance among monozygotic twins (Gottfredsdottir et al. 1999; Hammond et al. 2002; Klein et al. 1994; Meyers et al. 1995; Seddon et al. 2005) and a heritability score of 45% was demonstrated in one study focusing on ARM.”
BackgroundResultMaurya, M., Bora, K., Blomfield, A. K., Pavlovich, M. C., Huang, S., Liu, C.-H., & Chen, J. (2023) · Neural Regeneration Research · doi:10.4103/1673-5374.369098 · Cited by 63 · see citing works
“…of AMD (De Jong et al., 1997; Seddon et al., 1997; Klaver et al., 1998) was supported by studies of monozygotic twins with significantly increased concordance rate compared to dizygotic twins (Dosso and Bovet, 1992; Klein et al., 1994; Meyers, 1994; Hammond et al., 2002; Grizzard et al., 2003).”
Age-related macular degeneration: a perspective on genetic studies
Patel, N., Adewoyin, T., & Chong, V. N. (2007) · Eye · doi:10.1038/sj.eye.6702844 · Cited by 62 · see citing works
Epigenetics, microbiota, and intraocular inflammation: New paradigms of immune regulation in the eye
Wen, X., Hu, X., Li, M., Ge, X., Deng, Y., Bible, P. W., & Wei, L. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.01.001 · Cited by 64 · see citing works
“(Hammond et al., 2002).”
Lango, H., & Weedon, M. N. (2007) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2007.01895.x · Cited by 62 · see citing works
Genetics of Inherited Retinal Disease
Francis, P. J. (2006) · Journal of the Royal Society of Medicine · doi:10.1258/jrsm.99.4.189 · Cited by 62 · see citing works
Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy
Sauer, L., Andersen, K. M., Dysli, C., Zinkernagel, M. S., Bernstein, P. S., & Hammer, M. (2018) · Journal of Biomedical Optics · doi:10.1117/1.jbo.23.9.091415 · Cited by 61 · see citing works
A Genetic Contribution to Intraocular Pressure: The Beaver Dam Eye Study
Duggal, P., Klein, A. P., Lee, K. E., Iyengar, S. K., Klein, R., Wilson, J., & Klein, B. E. K. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-0729 · Cited by 61 · see citing works
Schmidt, S., Scott, W. K., Postel, E. A., Agarwal, A., Hauser, E. R., De La Paz, M. A., Gilbert, J. R., Weeks, D. E., Gorin, M. B., Haines, J. L., et al. (2004) · BMC Genetics · doi:10.1186/1471-2156-5-18 · Cited by 60 · see citing works
“A contribution of genetic susceptibility is supported by epidemiologic [5-7] and twin studies [8,9], as well as segregation analyses [10].”
ResultDifferent Therapeutic Approaches for Dry and Wet AMD
Marchesi, N., Capierri, M., Pascale, A., & Barbieri, A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252313053 · Cited by 63 · see citing works
“Several studies show the contribution of genetic factors in AMD development [15–18].”
Goto, A., Akahori, M., Okamoto, H., MINAMI, M., Terauchi, N., Haruhata, Y., Obazawa, M., Noda, T., Honda, M., Mizota, A., et al. (2009) · Journal of ocular biology, diseases, and informatics · doi:10.1007/s12177-009-9047-1 · Cited by 61 · see citing works
“A concordance for AMD phenotypes in twins, and a higher risk of siblings of individuals with AMD have been reported [9–14].”
BackgroundScholl, H. P. N., Pető, T., Dandekar, S. S., Bunce, C., Xing, W., Jenkins, S. A., & Bird, A. C. (2003) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-002-0602-8 · Cited by 57 · see citing works
“A recent study comparing the concordance of monozygotic and dizygotic twin pairs confirmed a significant genetic influence in ARM [5].”
BackgroundResultSelf-citationDisease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., & Wright, A. F. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl091 · Cited by 57 · see citing works
“Genetic factors are implicated in AMD on the basis of twin, family and association studies but it appears to be a genetically complex disorder (6).”
BackgroundMunch, I. C., Linneberg, A. R., & Larsen, M. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10785 · Cited by 57 · see citing works
“In conclusion, precursors for AMD were associated with modifiable obesity-related risk factors, notably associations of lower physical activity with macular drusen > 63 lm and lower serum HDL, and moderately elevated serum triglycerides with 20 or more small, hard macular drusen per eye—a trait that has previously bee…”
BackgroundResultGenomic aspects of age-related macular degeneration
Horie‐Inoue, K., & Inoue, S. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.013 · Cited by 54 · see citing works
Age-Related Macular Degeneration Preferred Practice Pattern®
Vemulakonda, G. A., Bailey, S. T., Kim, S. J., Kovach, J. L., Lim, J. I., Ying, G., & Flaxel, C. J. (2025) · Ophthalmology · doi:10.1016/j.ophtha.2024.12.018 · Cited by 54 · see citing works
The eye as a model of ageing in translational research – Molecular, epigenetic and clinical aspects
Pathai, S., Shiels, P. G., Lawn, S. D., Cook, C., & Gilbert, C. E. (2012) · Ageing Research Reviews · doi:10.1016/j.arr.2012.11.002 · Cited by 50 · see citing works
Self-citationOlder men's experiences of living with severe visual impairment
Moore, L. W., & Miller, M. (2003) · Journal of Advanced Nursing · doi:10.1046/j.1365-2648.2003.02668.x · Cited by 49 · see citing works
Risk Factors for Age-Related Maculopathy
Connell, P., Keane, P. A., O’Neill, E. C., Al‐Taie, R., Loane, E., Neelam, K., Nolan, J. M., & Beatty, S. (2009) · Journal of Ophthalmology · doi:10.1155/2009/360764 · Cited by 47 · see citing works
“6% in their study group, with concordance rates of 37% and 19% for monozygotic and dizygotic twin pairs, respectively [13].”
BackgroundTwin study of age-related macular degeneration
Grizzard, W. S., Arnett, D. K., & Haag, S. L. (2003) · Ophthalmic Epidemiology · doi:10.1076/opep.10.5.315.17317 · Cited by 48 · see citing works
Naj, A. C., Scott, W. K., Courtenay, M. D., Cade, W. H., Schwartz, S. G., Kovach, J. L., Agarwal, A., Wang, G., Haines, J. L., & Pericak‐Vance, M. A. (2013) · Annals of Human Genetics · doi:10.1111/ahg.12011 · Cited by 46 · see citing works
“While genetic studies like those mentioned here have clearly implicated roles for genes in the complement pathway and chronic inflammation, much of AMD’s genetic contribution, with heritability (h2) estimated to be between 45% and 71% (Hammond et al., 2002; Seddon et al., 2005), remains unknown and recent work has ind…”
BackgroundChu, J., Zhou, C., Lü, N., Zhang, X., & Dong, F.-T. (2008) · Chinese Medical Journal · doi:10.1097/00029330-200812020-00011 · Cited by 46 · see citing works
Fisher, S. A., Rivera, A., Fritsche, L. G., Babadjanova, G., Petrov, S., & Weber, B. H. F. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.105577 · Cited by 45 · see citing works
Unraveling A Complex Genetic Disease: Age-related Macular Degeneration
Chamberlain, M., Baird, P. N., Dirani, M., & Guymer, R. H. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.08.003 · Cited by 42 · see citing works
Genetic and Environmental Underpinnings to Age-Related Ocular Diseases
Seddon, J. M. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13234 · Cited by 41 · see citing works
“Similar results were seen in a survey of female twins.(11)”
ResultTyping of ARMS2 and CFH in Age-Related Macular Degeneration
Ricci, F. (2009) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2009.237 · Cited by 39 · see citing works
Munch, I. C., Ek, J., Kessel, L., Sander, B., Almind, G. J., Brøndum‐Nielsen, K., Linneberg, A. R., & Larsen, M. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4482 · Cited by 40 · see citing works
Richter‐Mueksch, S., Stur, M., Stifter, E., & Radner, W. (2005) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-005-0063-y · Cited by 39 · see citing works
“Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the Western world in individuals over 60 years old [11, 13, 14, 17].”
BackgroundMolecular Genetic Mechanisms in Age-Related Macular Degeneration
Shughoury, A., Sevgi, D. D., & Ciulla, T. A. (2022) · Genes · doi:10.3390/genes13071233 · Cited by 39 · see citing works
Graßmann, F., Fauser, S., & Weber, B. H. F. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2015.04.039 · Cited by 37 · see citing works
Fisher, S. A., Rivera, A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., Rudolph, G., & Weber, B. H. F. (2007) · Human Mutation · doi:10.1002/humu.20464 · Cited by 38 · see citing works
“Twin studies have shown increased concordance in monozygotic (MZ) twins compared with dizygotic (DZ) twins for both early-stage AMD [Hammond et al., 2002] and advanced disease [Seddon et al., 2005].”
BackgroundHeredity of Small Hard Drusen in Twins Aged 20–46 Years
Munch, I. C., Sander, B., Kessel, L., Hougaard, J. L., Taarnhøj, N. C. B. B., Sørensen, T. I. A., Kyvik, K. O., & Larsen, M. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0529 · Cited by 36 · see citing works
“A heritability of 81% of the phenotype 20 hard drusen per eye has previously been found in 506 female twin pairs (age range, 49–79 years).(6) In the present study, we examined the prevalence, systemic associations, concordance, and heritability of small hard drusen through the use of red-free fundus photography in twi…”
BackgroundThe Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review
Bailey, J. N. C., Hoffman, J., Sardell, R. J., Scott, W. K., Pericak‐Vance, M. A., & Haines, J. L. (2016) · Journal of Clinical Medicine · doi:10.3390/jcm5030031 · Cited by 36 · see citing works
“dizygotic twin concordance [12–16] and family studies reporting increased risk of 2–3 fold among first-degree relatives of patients [14,17,18].”
BackgroundAge‐Related Macular Degeneration: A Practical Approach to a Challenging Disease
Bourla, D. H., & Young, T. A. (2006) · Journal of the American Geriatrics Society · doi:10.1111/j.1532-5415.2006.00771.x · Cited by 37 · see citing works
“Recognized risk factors are age, white race, and heredity.(10,11) There is a mild association between hypertension and AMD and a mild to moderate association between AMD and the clinical manifestations of cardiovascular disease.”
BackgroundPDGF-C and PDGF-D in ocular diseases
Kumar, A., & Li, X. (2017) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2017.10.002 · Cited by 34 · see citing works
“However, age is themost prominent risk factor associatedwith AMD, followed by genetic and environmental factors and lifestyle (Fritsche et al., 2014; Hammond et al., 2002; Rudnicka et al., 2015; Sobrin and Seddon, 2014).”
BackgroundThe role of omega-3 and micronutrients in age-related macular degeneration
Querques, G., & Souied, E. H. (2014) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2014.01.001 · Cited by 31 · see citing works
Genetic Factors Associated with Age-Related Macular Degeneration
Leveziel, N., Tilleul, J., Puche, N., Zerbib, J., Lalloum, F., Querques, G., & Souied, E. H. (2011) · Ophthalmologica · doi:10.1159/000328981 · Cited by 32 · see citing works
Age-related macular degeneration
de Jong, E. K., Geerlings, M. J., & den Hollander, A. I. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-816222-4.00010-1 · Cited by 32 · see citing works
Mann, S. S., Rutishauser-Arnold, Y., Pető, T., Jenkins, S. A., Leung, I., Xing, W., Bird, A. C., Bunce, C., & Webster, A. R. (2010) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-010-1483-x · Cited by 32 · see citing works
“[21] who demonstrated a high heritability for the presence of soft drusen and >=20 hard drusen at the macula, comparing concordance in monozygotic and dizygotic twins.”
BackgroundSelf-citationCheng, Y., Huang, L., Li, X., Zhou, P., Zeng, W., & Zhang, C. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053665 · Cited by 29 · see citing works
“A concordance for AMD phenotypes in twins, and a higher risk of siblings of individuals with AMD have been reported [13,14,15,16,17,18].”
BackgroundSauer, L., Komanski, C. B., Vitale, A. S., Hansen, E. D., & Bernstein, P. S. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.19-26835 · Cited by 28 · see citing works
- Authors
- Hammond, C. J., Webster, A. R., Snieder, H., Bird, A. C., Gilbert, C. E., & Spector, T. D.
- Affiliations
- St Thomas' Hospital (GB)
- Moorfields Eye Hospital (GB)
- Corresponding author
- Hammond, Christopher J
- ORCID
- Venue
- Ophthalmology
- Publisher
- Elsevier BV
- Published
- 2002-04
- Volume
- 109
- Issue
- 4
- Pages
- 730-736
- ISSN
- 0161-6420 (ISSN-L)
- OpenAlex
- W64158717
- Cited by
- 237
- References
- 40
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 4 · 2023: 5 · 2022: 9 · 2021: 9 · 2020: 6 · 2019: 12 · 2018: 4 · 2017: 7 · 2016: 10 · 2015: 9 · 2014: 15 · 2013: 12 · 2012: 12
- FWCI
- 12.36
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust
- British Heart Foundation
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- age-related maculopathy, age-related macular degeneration, heritability, genetic factors, twin concordance, soft drusen, pigmentary changes, dominant inheritance, prevalence, female twins, macular drusen
- MeSH terms
- Aged, Diseases in Twins, England, Humans, Macular Degeneration, Middle Aged, Phenotype, Twins, Dizygotic, Twins, Monozygotic, Prevalence
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