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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 (locations): APOE (19q13.32); CFHR1 (1q31.3); CFHR3 (1q31.3); HMCN1 (1q25.3-31.1); PLEKHA1 (10q26.13)
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 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). ARMD5 (613761) and ARMD6 (613757) are associated with mutation in the ERCC6 (609413) and RAX2 (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) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (603030). ARMD11 (611953) is association 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 GTR]

Additional descriptions

From OMIM
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 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). ARMD5 (613761) and ARMD6 (613757) are associated with mutation in the ERCC6 (609413) and RAX2 (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) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (603030). ARMD11 (611953) is association 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.  http://www.omim.org/entry/603075
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, but reduced dim light (scotopic) vision often occurs in the early stages of the disease.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 vision loss that worsens slowly over time. 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.  https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration

Clinical features

Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.

Recent clinical studies

Etiology

Azar G, Quaranta-El Maftouhi M, Masella JJ, Mauget-Faÿsse M
J Fr Ophtalmol 2017 Apr;40(4):303-313. Epub 2017 Mar 21 doi: 10.1016/j.jfo.2016.11.009. PMID: 28336284
Nghiem-Buffet S, Giocanti-Auregan A, Jung C, Dubois L, Dourmad P, Galbadon L, Fajnkuchen F, Quentel G, Cohen SY
Retina 2017 Jan;37(1):53-59. doi: 10.1097/IAE.0000000000001134. PMID: 27380430
van de Graaf ES, Despriet DDG, Klaver CCW, Simonsz HJ
BMC Ophthalmol 2016 May 17;16(1):56. doi: 10.1186/s12886-016-0234-0. PMID: 27184381Free PMC Article
Skalicky SE, Fenwick E, Martin KR, Crowston J, Goldberg I, McCluskey P
Clin Exp Ophthalmol 2016 Jul;44(5):377-87. Epub 2016 Jan 26 doi: 10.1111/ceo.12672. PMID: 26482212
Chong EW, Wang Y, Robman LD, Aung KZ, Makeyeva GA, Giles GG, Graves S, Cicuttini FM, Guymer RH
PLoS One 2015;10(9):e0137322. Epub 2015 Sep 10 doi: 10.1371/journal.pone.0137322. PMID: 26355683Free PMC Article

Diagnosis

Azar G, Quaranta-El Maftouhi M, Masella JJ, Mauget-Faÿsse M
J Fr Ophtalmol 2017 Apr;40(4):303-313. Epub 2017 Mar 21 doi: 10.1016/j.jfo.2016.11.009. PMID: 28336284
Nghiem-Buffet S, Giocanti-Auregan A, Jung C, Dubois L, Dourmad P, Galbadon L, Fajnkuchen F, Quentel G, Cohen SY
Retina 2017 Jan;37(1):53-59. doi: 10.1097/IAE.0000000000001134. PMID: 27380430
Lee DK, Kim SH, You YS, Kwon OW
Korean J Ophthalmol 2016 Aug;30(4):265-71. Epub 2016 Jul 21 doi: 10.3341/kjo.2016.30.4.265. PMID: 27478353Free PMC Article
Parodi MB, Zucchiatti I, Cicinelli MV, Cascavilla ML, Bandello F
Retina 2016 Jun;36(6):1119-25. doi: 10.1097/IAE.0000000000000852. PMID: 26579787
Skalicky SE, Fenwick E, Martin KR, Crowston J, Goldberg I, McCluskey P
Clin Exp Ophthalmol 2016 Jul;44(5):377-87. Epub 2016 Jan 26 doi: 10.1111/ceo.12672. PMID: 26482212

Therapy

Azar G, Quaranta-El Maftouhi M, Masella JJ, Mauget-Faÿsse M
J Fr Ophtalmol 2017 Apr;40(4):303-313. Epub 2017 Mar 21 doi: 10.1016/j.jfo.2016.11.009. PMID: 28336284
Nghiem-Buffet S, Giocanti-Auregan A, Jung C, Dubois L, Dourmad P, Galbadon L, Fajnkuchen F, Quentel G, Cohen SY
Retina 2017 Jan;37(1):53-59. doi: 10.1097/IAE.0000000000001134. PMID: 27380430
Lee DK, Kim SH, You YS, Kwon OW
Korean J Ophthalmol 2016 Aug;30(4):265-71. Epub 2016 Jul 21 doi: 10.3341/kjo.2016.30.4.265. PMID: 27478353Free PMC Article
Annweiler C, Drouet M, Duval GT, Paré PY, Leruez S, Dinomais M, Milea D
Maturitas 2016 Jun;88:101-12. Epub 2016 Apr 2 doi: 10.1016/j.maturitas.2016.04.002. PMID: 27105707
Rakoczy EP, Lai CM, Magno AL, Wikstrom ME, French MA, Pierce CM, Schwartz SD, Blumenkranz MS, Chalberg TW, Degli-Esposti MA, Constable IJ
Lancet 2015 Dec 12;386(10011):2395-403. Epub 2015 Sep 30 doi: 10.1016/S0140-6736(15)00345-1. PMID: 26431823

Prognosis

Nghiem-Buffet S, Giocanti-Auregan A, Jung C, Dubois L, Dourmad P, Galbadon L, Fajnkuchen F, Quentel G, Cohen SY
Retina 2017 Jan;37(1):53-59. doi: 10.1097/IAE.0000000000001134. PMID: 27380430
Cymerman RM, Skolnick AH, Cole WJ, Nabati C, Curcio CA, Smith RT
Curr Eye Res 2016 Nov;41(11):1482-1488. Epub 2016 May 9 doi: 10.3109/02713683.2015.1128552. PMID: 27159771Free PMC Article
Hautamäki A, Luoma A, Immonen I
Retina 2016 Nov;36(11):2183-2190. doi: 10.1097/IAE.0000000000001061. PMID: 27135211
Huisingh C, McGwin G Jr, Neely D, Zarubina A, Clark M, Zhang Y, Curcio CA, Owsley C
Invest Ophthalmol Vis Sci 2016 Feb;57(2):739-45. doi: 10.1167/iovs.15-18316. PMID: 26906160Free PMC Article
Skalicky SE, Fenwick E, Martin KR, Crowston J, Goldberg I, McCluskey P
Clin Exp Ophthalmol 2016 Jul;44(5):377-87. Epub 2016 Jan 26 doi: 10.1111/ceo.12672. PMID: 26482212

Clinical prediction guides

Nghiem-Buffet S, Giocanti-Auregan A, Jung C, Dubois L, Dourmad P, Galbadon L, Fajnkuchen F, Quentel G, Cohen SY
Retina 2017 Jan;37(1):53-59. doi: 10.1097/IAE.0000000000001134. PMID: 27380430
van de Graaf ES, Despriet DDG, Klaver CCW, Simonsz HJ
BMC Ophthalmol 2016 May 17;16(1):56. doi: 10.1186/s12886-016-0234-0. PMID: 27184381Free PMC Article
Hautamäki A, Luoma A, Immonen I
Retina 2016 Nov;36(11):2183-2190. doi: 10.1097/IAE.0000000000001061. PMID: 27135211
Annweiler C, Drouet M, Duval GT, Paré PY, Leruez S, Dinomais M, Milea D
Maturitas 2016 Jun;88:101-12. Epub 2016 Apr 2 doi: 10.1016/j.maturitas.2016.04.002. PMID: 27105707
Skalicky SE, Fenwick E, Martin KR, Crowston J, Goldberg I, McCluskey P
Clin Exp Ophthalmol 2016 Jul;44(5):377-87. Epub 2016 Jan 26 doi: 10.1111/ceo.12672. PMID: 26482212

Recent systematic reviews

Wong EN, Chew AL, Morgan WH, Patel PJ, Chen FK
Asia Pac J Ophthalmol (Phila) 2017 Jan-Feb;6(1):70-79. doi: 10.22608/APO.201643. PMID: 28161925
Jabbarpoor Bonyadi MH, Yaseri M, Bonyadi M, Soheilian M, Karimi S
Curr Eye Res 2016 Dec;41(12):1519-1525. Epub 2016 Jun 7 doi: 10.3109/02713683.2016.1158274. PMID: 27269047
Annweiler C, Drouet M, Duval GT, Paré PY, Leruez S, Dinomais M, Milea D
Maturitas 2016 Jun;88:101-12. Epub 2016 Apr 2 doi: 10.1016/j.maturitas.2016.04.002. PMID: 27105707
Ferrara D, Seddon JM
JAMA Ophthalmol 2015 Jul;133(7):785-91. doi: 10.1001/jamaophthalmol.2015.0814. PMID: 25880396
Wong WL, Su X, Li X, Cheung CM, Klein R, Cheng CY, Wong TY
Lancet Glob Health 2014 Feb;2(2):e106-16. Epub 2014 Jan 3 doi: 10.1016/S2214-109X(13)70145-1. PMID: 25104651

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