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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
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
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 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, 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.
Foveal hypopigmentation
MedGen UID:
868413
Concept ID:
C4022807
Finding
Decreased amount of pigmentation in the fovea centralis.

Recent clinical studies

Etiology

Matsumoto H, Hiroe T, Morimoto M, Mimura K, Ito A, Akiyama H
Jpn J Ophthalmol 2018 Mar;62(2):144-150. Epub 2018 Feb 6 doi: 10.1007/s10384-018-0562-0. PMID: 29411171
Lana TP, da Silva Costa SM, Ananina G, Hirata FE, Rim PHH, Medina FM, de Vasconcellos JPC, de Melo MB
Ophthalmic Genet 2018 Jan-Feb;39(1):46-50. Epub 2017 Aug 28 doi: 10.1080/13816810.2017.1354382. PMID: 28846052
Heier JS, Kherani S, Desai S, Dugel P, Kaushal S, Cheng SH, Delacono C, Purvis A, Richards S, Le-Halpere A, Connelly J, Wadsworth SC, Varona R, Buggage R, Scaria A, Campochiaro PA
Lancet 2017 Jul 1;390(10089):50-61. Epub 2017 May 17 doi: 10.1016/S0140-6736(17)30979-0. PMID: 28526489
Stasiukonyte N, Liutkeviciene R, Vilkeviciute A, Banevicius M, Kriauciuniene L
Ophthalmic Genet 2017 Jul-Aug;38(4):357-364. Epub 2017 Jan 17 doi: 10.1080/13816810.2016.1242018. PMID: 28095090
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

Diagnosis

Matsumoto H, Hiroe T, Morimoto M, Mimura K, Ito A, Akiyama H
Jpn J Ophthalmol 2018 Mar;62(2):144-150. Epub 2018 Feb 6 doi: 10.1007/s10384-018-0562-0. PMID: 29411171
Fan W, Abdelfattah NS, Uji A, Lei J, Ip M, Sadda SR, Wykoff CC; TREX-AMD Study Group.
Graefes Arch Clin Exp Ophthalmol 2018 Mar;256(3):511-518. Epub 2018 Jan 27 doi: 10.1007/s00417-017-3888-2. PMID: 29374796
Stasiukonyte N, Liutkeviciene R, Vilkeviciute A, Banevicius M, Kriauciuniene L
Ophthalmic Genet 2017 Jul-Aug;38(4):357-364. Epub 2017 Jan 17 doi: 10.1080/13816810.2016.1242018. PMID: 28095090
Neffendorf JE, Desai R, Wang Y, Kelly J, Murphy C, Reeves BC, Chakravarthy U, Wordsworth S, Lewis C, Peacock J, Uddin S, O'Sullivan JM, Jackson TL
Trials 2016 Nov 24;17(1):560. doi: 10.1186/s13063-016-1676-7. PMID: 27881184Free 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

Therapy

Matsumoto H, Hiroe T, Morimoto M, Mimura K, Ito A, Akiyama H
Jpn J Ophthalmol 2018 Mar;62(2):144-150. Epub 2018 Feb 6 doi: 10.1007/s10384-018-0562-0. PMID: 29411171
Fan W, Abdelfattah NS, Uji A, Lei J, Ip M, Sadda SR, Wykoff CC; TREX-AMD Study Group.
Graefes Arch Clin Exp Ophthalmol 2018 Mar;256(3):511-518. Epub 2018 Jan 27 doi: 10.1007/s00417-017-3888-2. PMID: 29374796
Heier JS, Kherani S, Desai S, Dugel P, Kaushal S, Cheng SH, Delacono C, Purvis A, Richards S, Le-Halpere A, Connelly J, Wadsworth SC, Varona R, Buggage R, Scaria A, Campochiaro PA
Lancet 2017 Jul 1;390(10089):50-61. Epub 2017 May 17 doi: 10.1016/S0140-6736(17)30979-0. PMID: 28526489
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
Neffendorf JE, Desai R, Wang Y, Kelly J, Murphy C, Reeves BC, Chakravarthy U, Wordsworth S, Lewis C, Peacock J, Uddin S, O'Sullivan JM, Jackson TL
Trials 2016 Nov 24;17(1):560. doi: 10.1186/s13063-016-1676-7. PMID: 27881184Free PMC Article

Prognosis

Matsumoto H, Hiroe T, Morimoto M, Mimura K, Ito A, Akiyama H
Jpn J Ophthalmol 2018 Mar;62(2):144-150. Epub 2018 Feb 6 doi: 10.1007/s10384-018-0562-0. PMID: 29411171
Fan W, Abdelfattah NS, Uji A, Lei J, Ip M, Sadda SR, Wykoff CC; TREX-AMD Study Group.
Graefes Arch Clin Exp Ophthalmol 2018 Mar;256(3):511-518. Epub 2018 Jan 27 doi: 10.1007/s00417-017-3888-2. PMID: 29374796
Lee H, Jang YJ, Lee HK, Kang HY
Korean J Ophthalmol 2017 Dec;31(6):557-567. Epub 2017 Nov 24 doi: 10.3341/kjo.2017.0025. PMID: 29022298Free PMC Article
Kim JH, Chang YS, Kim JW
Retina 2017 Dec;37(12):2254-2261. doi: 10.1097/IAE.0000000000001494. PMID: 28092343
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

Fan W, Abdelfattah NS, Uji A, Lei J, Ip M, Sadda SR, Wykoff CC; TREX-AMD Study Group.
Graefes Arch Clin Exp Ophthalmol 2018 Mar;256(3):511-518. Epub 2018 Jan 27 doi: 10.1007/s00417-017-3888-2. PMID: 29374796
Lana TP, da Silva Costa SM, Ananina G, Hirata FE, Rim PHH, Medina FM, de Vasconcellos JPC, de Melo MB
Ophthalmic Genet 2018 Jan-Feb;39(1):46-50. Epub 2017 Aug 28 doi: 10.1080/13816810.2017.1354382. PMID: 28846052
Heier JS, Kherani S, Desai S, Dugel P, Kaushal S, Cheng SH, Delacono C, Purvis A, Richards S, Le-Halpere A, Connelly J, Wadsworth SC, Varona R, Buggage R, Scaria A, Campochiaro PA
Lancet 2017 Jul 1;390(10089):50-61. Epub 2017 May 17 doi: 10.1016/S0140-6736(17)30979-0. PMID: 28526489
Kim JH, Chang YS, Kim JW
Retina 2017 Dec;37(12):2254-2261. doi: 10.1097/IAE.0000000000001494. PMID: 28092343
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

Cassels NK, Wild JM, Margrain TH, Chong V, Acton JH
Surv Ophthalmol 2018 Jan - Feb;63(1):40-55. Epub 2017 Jun 1 doi: 10.1016/j.survophthal.2017.05.007. PMID: 28579549
Jonas JB, Cheung CMG, Panda-Jonas S
Asia Pac J Ophthalmol (Phila) 2017 Nov-Dec;6(6):493-497. Epub 2017 Sep 14 doi: 10.22608/APO.2017251. PMID: 28906084
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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