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Age-related macular degeneration

Reviewed June 2011

What is age-related macular degeneration?

Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time.

Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected.

Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and slowly progressive vision loss. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other.

The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.

How common is age-related macular degeneration?

Age-related macular degeneration has an estimated prevalence of 1 in 2,000 people in the United States and other developed countries. The condition currently affects several million Americans, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases.

For reasons that are unclear, age-related macular degeneration affects individuals of European descent more frequently than African Americans in the United States.

What genes are related to age-related macular degeneration?

Age-related macular degeneration results from a combination of genetic and environmental factors. Many of these factors have been identified, but some remain unknown.

Researchers have considered changes in many genes as possible risk factors for age-related macular degeneration. The best-studied of these genes are involved in a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. Genetic changes in and around several complement system genes, including the CFH gene, contribute to a person's risk of developing age-related macular degeneration. It is unclear how these genetic changes are related to the retinal damage and vision loss characteristic of this condition.

Changes on the long (q) arm of chromosome 10 in a region known as 10q26 are also associated with an increased risk of age-related macular degeneration. The 10q26 region contains two genes of interest, ARMS2 and HTRA1. Changes in both genes have been studied as possible risk factors for the disease. However, because the two genes are so close together, it is difficult to tell which gene is associated with age-related macular degeneration risk, or whether increased risk results from variations in both genes.

Other genes that are associated with age-related macular degeneration include genes involved in transporting and processing high-density lipoprotein (HDL, also known as "good" cholesterol) and genes that have been associated with other forms of macular disease.

Researchers have also examined non-genetic factors that contribute to the risk of age-related macular degeneration. Age appears to be the most important risk factor; the chance of developing the condition increases significantly as a person gets older. Smoking is another established risk factor for age-related macular degeneration. Other factors that may increase the risk of this condition include high blood pressure, heart disease, a high-fat diet or one that is low in certain nutrients (such as antioxidants and zinc), obesity, and exposure to ultraviolet (UV) rays from sunlight. However, studies of these factors in age-related macular degeneration have had conflicting results

Related Gene(s)

Changes in these genes are associated with age-related macular degeneration.

  • ABCA4
  • APOE
  • ARMS2
  • ASPM
  • BEST1
  • C2
  • C3
  • CETP
  • CFB
  • CFH
  • CFHR2
  • CFHR4
  • CFHR5
  • CFI
  • CX3CR1
  • ELOVL4
  • ERCC6
  • F13B
  • FBLN5
  • HMCN1
  • HTRA1
  • LIPC
  • MAP2
  • TIMP3

How do people inherit age-related macular degeneration?

Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition.

Where can I find information about diagnosis or management of age-related macular degeneration?

These resources address the diagnosis or management of age-related macular degeneration and may include treatment providers.

  • AMD Alliance International: AMD Treatments (http://www.amdalliance.org/amd-treatments/)
  • BrightFocus Foundation: Macular Degeneration Treatment (http://www.brightfocus.org/macular/treatment/)
  • Genetic Testing Registry: Age-related macular degeneration (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0242383)
  • Genetic Testing Registry: Age-related macular degeneration 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1864205)
  • Genetic Testing Registry: Age-related macular degeneration 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1969108)
  • Genetic Testing Registry: Age-related macular degeneration 11 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2677774)
  • Genetic Testing Registry: Age-related macular degeneration 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/CN031413)
  • Genetic Testing Registry: Age-related macular degeneration 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1837187)
  • Genetic Testing Registry: Age-related macular degeneration 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853147)
  • Genetic Testing Registry: Age-related macular degeneration 7 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1857813)
  • Genetic Testing Registry: Age-related macular degeneration 9 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1969651)
  • Genetic Testing Registry: Susceptibility to age-related macular degeneration, wet type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1857815)
  • Genetic Testing Registry: Susceptibility to neovascular type of age-related macular degeneration (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1857814)
  • Macular Degeneration Partnership: Low Vision Rehabilitation (http://www.amd.org/low-vision-rehabilitation/)
  • Prevent Blindness America: Age-Related Macular Degeneration (AMD) Test - Amsler Grid (http://www.preventblindness.org/amsler-grid-instructions)

You might also find information on the diagnosis or management of age-related macular degeneration in Educational resources (http://www.ghr.nlm.nih.gov/condition/age-related-macular-degeneration/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/age-related-macular-degeneration/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about age-related macular degeneration?

You may find the following resources about age-related macular degeneration helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for age-related macular degeneration?

  • age-related maculopathy
  • AMD
  • ARMD
  • macular degeneration, age-related

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about age-related macular degeneration?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding age-related macular degeneration?

bacteria ; cholesterol ; chromosome ; first-degree relative ; gene ; HDL ; immune response ; inflammation ; inheritance ; lipoprotein ; macula ; pattern of inheritance ; peripheral ; population ; prevalence ; retina ; risk factors ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL; Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7401-6. doi: 10.1073/pnas.0912702107. Epub 2010 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/20385819?dopt=Abstract)
  • Coleman HR, Chan CC, Ferris FL 3rd, Chew EY. Age-related macular degeneration. Lancet. 2008 Nov 22;372(9652):1835-45. doi: 10.1016/S0140-6736(08)61759-6. (http://www.ncbi.nlm.nih.gov/pubmed/19027484?dopt=Abstract)
  • de Jong PT. Age-related macular degeneration. N Engl J Med. 2006 Oct 5;355(14):1474-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17021323?dopt=Abstract)
  • Hampton T. Genetic research provides insights into age-related macular degeneration. JAMA. 2010 Oct 13;304(14):1541-3. doi: 10.1001/jama.2010.1411. (http://www.ncbi.nlm.nih.gov/pubmed/20940375?dopt=Abstract)
  • Jager RD, Mieler WF, Miller JW. Age-related macular degeneration. N Engl J Med. 2008 Jun 12;358(24):2606-17. doi: 10.1056/NEJMra0801537. Review. Erratum in: N Engl J Med. 2008 Oct 16;359(16): 1736. (http://www.ncbi.nlm.nih.gov/pubmed/18550876?dopt=Abstract)
  • Lotery A, Trump D. Progress in defining the molecular biology of age related macular degeneration. Hum Genet. 2007 Nov;122(3-4):219-36. Epub 2007 Jul 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17659362?dopt=Abstract)
  • Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400. doi: 10.1073/pnas.0912019107. Epub 2010 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/20385826?dopt=Abstract)
  • Scholl HP, Fleckenstein M, Charbel Issa P, Keilhauer C, Holz FG, Weber BH. An update on the genetics of age-related macular degeneration. Mol Vis. 2007 Feb 7;13:196-205. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17327825?dopt=Abstract)
  • Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R174-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17911160?dopt=Abstract)
  • Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43. doi: 10.1146/annurev.genom.9.081307.164350. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19405847?dopt=Abstract)
  • Zhang H, Morrison MA, Dewan A, Adams S, Andreoli M, Huynh N, Regan M, Brown A, Miller JW, Kim IK, Hoh J, Deangelis MM. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. BMC Med Genet. 2008 Jun 9;9:51. doi: 10.1186/1471-2350-9-51. (http://www.ncbi.nlm.nih.gov/pubmed/18541031?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2011
Published: October 20, 2014