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Age-related macular degeneration 1(ARMD1)

MedGen UID:
400475
Concept ID:
C1864205
Disease or Syndrome
Synonyms: ARMD1; MACULOPATHY, AGE-RELATED, 1
 
Genes: HMCN1; PLEKHA1; CFHR3; CFHR1; APOE
Cytogenetic locations: 10q26.13; 19q13.32; 1q25.3-31.1; 1q31.3
OMIM®: 603075

Definition

Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular Degeneration The form of ARMD susceptibility designated ARMD1 is associated with variation in the HMCN1 gene. ARMD2 (153800) is associated with mutation in the ABCR gene (601691) on chromosome 1p, and ARMD3 (608895) is caused by mutation in the FBLN5 gene (604580) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; 610698) appears to be explained by a polymorphism in the CFH gene (134370.0008). Forms designated ARMD5 (613761) and ARMD6 (613757) are associated with mutations in the ERCC6 (609413) and RAXL1 (610362) genes, respectively. ARMD7 (610149) and ARMD8 (613778), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (602194) and ARMS2 (611313) genes, respectively. ARMD9 (611378) is associated with single-nucleotide polymorphisms in the C3 gene (120700). ARMD10 (611488) is associated with variation in the TLR4 gene (603030); ARMD11 (611953) with variation in the CST3 gene (604312); ARMD12 (613784) with variation in the CX3CR1 gene (601470); and ARMD13 (615439) with variation in the CFI gene (217030). ARMD14 (615489) is associated with variation in or near the C2 (613927) and CFB (138470) genes on chromosome 6p21. ARMD15 (615591) is associated with variation in the C9 gene (120940). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (590050). A haplotype carrying deletion of the complement factor H-related genes CFHR1 (134371) and CFHR3 (605336) is also associated with reduced risk of ARMD. Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found. [from OMIM]

Additional description

From GHR
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.  http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration

Recent clinical studies

Etiology

Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. [Epub ahead of print] PMID: 25458728
McGowan A, Silvestri G, Moore E, Silvestri V, Patterson CC, Maxwell AP, McKay GJ
Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. doi: 10.1167/iovs.14-15523. PMID: 25525170
Itty S, Day S, Lyles KW, Stinnett SS, Vajzovic LM, Mruthyunjaya P
Retina 2014 Sep;34(9):1779-86. doi: 10.1097/IAE.0000000000000178. PMID: 24946100
Agawa T, Usui Y, Wakabayashi Y, Okunuki Y, Juan M, Umazume K, Kezuka T, Takeuchi M, Yamauchi Y, Goto H
Retina 2014 Sep;34(9):1811-8. doi: 10.1097/IAE.0000000000000157. PMID: 24801651
Hagstrom SA, Ying GS, Pauer GJ, Sturgill-Short GM, Huang J, Maguire MG, Martin DF; Comparison of Age-Related Macular Degeneration Treatments Trials (CATT) Research Group
JAMA Ophthalmol 2014 May;132(5):521-7. doi: 10.1001/jamaophthalmol.2014.109. PMID: 24652518Free PMC Article

Diagnosis

McGowan A, Silvestri G, Moore E, Silvestri V, Patterson CC, Maxwell AP, McKay GJ
Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. doi: 10.1167/iovs.14-15523. PMID: 25525170
Sabeti F, Maddess T, Essex RW, Saikal A, James AC, Carle CF
Optom Vis Sci 2014 Aug;91(8):904-15. doi: 10.1097/OPX.0000000000000319. PMID: 24987814
Itty S, Day S, Lyles KW, Stinnett SS, Vajzovic LM, Mruthyunjaya P
Retina 2014 Sep;34(9):1779-86. doi: 10.1097/IAE.0000000000000178. PMID: 24946100
Chin YC, Wong TY, Cheung CM, Cheung CY, Zheng Y, Mitchell P, Huang H, Wang JJ, Ikram MK
Ophthalmic Epidemiol 2014 Aug;21(4):224-9. Epub 2014 Jun 19 doi: 10.3109/09286586.2014.926941. [Epub ahead of print] PMID: 24945891
Agawa T, Usui Y, Wakabayashi Y, Okunuki Y, Juan M, Umazume K, Kezuka T, Takeuchi M, Yamauchi Y, Goto H
Retina 2014 Sep;34(9):1811-8. doi: 10.1097/IAE.0000000000000157. PMID: 24801651

Therapy

Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. [Epub ahead of print] PMID: 25458728
McGowan A, Silvestri G, Moore E, Silvestri V, Patterson CC, Maxwell AP, McKay GJ
Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. doi: 10.1167/iovs.14-15523. PMID: 25525170
Chin YC, Wong TY, Cheung CM, Cheung CY, Zheng Y, Mitchell P, Huang H, Wang JJ, Ikram MK
Ophthalmic Epidemiol 2014 Aug;21(4):224-9. Epub 2014 Jun 19 doi: 10.3109/09286586.2014.926941. [Epub ahead of print] PMID: 24945891
Agawa T, Usui Y, Wakabayashi Y, Okunuki Y, Juan M, Umazume K, Kezuka T, Takeuchi M, Yamauchi Y, Goto H
Retina 2014 Sep;34(9):1811-8. doi: 10.1097/IAE.0000000000000157. PMID: 24801651
Hagstrom SA, Ying GS, Pauer GJ, Sturgill-Short GM, Huang J, Maguire MG, Martin DF; Comparison of Age-Related Macular Degeneration Treatments Trials (CATT) Research Group
JAMA Ophthalmol 2014 May;132(5):521-7. doi: 10.1001/jamaophthalmol.2014.109. PMID: 24652518Free PMC Article

Prognosis

Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. [Epub ahead of print] PMID: 25458728
McGowan A, Silvestri G, Moore E, Silvestri V, Patterson CC, Maxwell AP, McKay GJ
Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. doi: 10.1167/iovs.14-15523. PMID: 25525170
Gopinath B, Liew G, Burlutsky G, Mitchell P
Invest Ophthalmol Vis Sci 2014 Nov 11;55(12):7799-803. doi: 10.1167/iovs.14-15575. PMID: 25389200
Sabeti F, Maddess T, Essex RW, Saikal A, James AC, Carle CF
Optom Vis Sci 2014 Aug;91(8):904-15. doi: 10.1097/OPX.0000000000000319. PMID: 24987814
Hagstrom SA, Ying GS, Pauer GJ, Sturgill-Short GM, Huang J, Maguire MG, Martin DF; Comparison of Age-Related Macular Degeneration Treatments Trials (CATT) Research Group
JAMA Ophthalmol 2014 May;132(5):521-7. doi: 10.1001/jamaophthalmol.2014.109. PMID: 24652518Free PMC Article

Clinical prediction guides

McGowan A, Silvestri G, Moore E, Silvestri V, Patterson CC, Maxwell AP, McKay GJ
Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. doi: 10.1167/iovs.14-15523. PMID: 25525170
Sabeti F, Maddess T, Essex RW, Saikal A, James AC, Carle CF
Optom Vis Sci 2014 Aug;91(8):904-15. doi: 10.1097/OPX.0000000000000319. PMID: 24987814
Shah VP, Shah SA, Mrejen S, Freund KB
Retina 2014 Jul;34(7):1281-8. doi: 10.1097/IAE.0000000000000166. PMID: 24695062
Hagstrom SA, Ying GS, Pauer GJ, Sturgill-Short GM, Huang J, Maguire MG, Martin DF; Comparison of Age-Related Macular Degeneration Treatments Trials (CATT) Research Group
JAMA Ophthalmol 2014 May;132(5):521-7. doi: 10.1001/jamaophthalmol.2014.109. PMID: 24652518Free PMC Article
Korb CA, Kottler UB, Wolfram C, Hoehn R, Schulz A, Zwiener I, Wild PS, Pfeiffer N, Mirshahi A
Graefes Arch Clin Exp Ophthalmol 2014 Sep;252(9):1403-11. Epub 2014 Feb 25 doi: 10.1007/s00417-014-2591-9. [Epub ahead of print] PMID: 24566902

Recent systematic reviews

Liu R, Wang T, Zhang B, Qin L, Wu C, Li Q, Ma L
Invest Ophthalmol Vis Sci 2014 Dec 16;56(1):252-8. doi: 10.1167/iovs.14-15553. PMID: 25515572
Klein R, Myers CE, Buitendijk GH, Rochtchina E, Gao X, de Jong PT, Sivakumaran TA, Burlutsky G, McKean-Cowdin R, Hofman A, Iyengar SK, Lee KE, Stricker BH, Vingerling JR, Mitchell P, Klein BE, Klaver CC, Wang JJ
Am J Ophthalmol 2014 Sep;158(3):513-24.e3. Epub 2014 May 28 doi: 10.1016/j.ajo.2014.05.027. [Epub ahead of print] PMID: 24879949Free PMC Article
Park SJ, Lee JH, Woo SJ, Ahn J, Shin JP, Song SJ, Kang SW, Park KH; Epidemiologic Survey Committee of the Korean Ophthalmologic Society
Ophthalmology 2014 Sep;121(9):1756-65. Epub 2014 May 9 doi: 10.1016/j.ophtha.2014.03.022. [Epub ahead of print] PMID: 24813632
Messenger WB, Campbell JP, Faridi A, Shippey L, Bailey ST, Lauer AK, Flaxel CJ, Hwang TS
Br J Ophthalmol 2014 Sep;98(9):1205-7. Epub 2014 May 2 doi: 10.1136/bjophthalmol-2013-304829. [Epub ahead of print] PMID: 24795334
Ye J, Xu YF, He JJ, Lou LX
Invest Ophthalmol Vis Sci 2014 Apr 25;55(4):2687-96. doi: 10.1167/iovs.13-13206. PMID: 24508796

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