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Age related macular degeneration 8(ARMD8)

MedGen UID:
462420
Concept ID:
C3151070
Disease or Syndrome
Synonyms: ARMD8; MACULAR DEGENERATION, AGE-RELATED, 8
 
Gene (location): ARMS2 (10q26.13)
 
Monarch Initiative: MONDO:0013416
OMIM®: 613778

Definition

Age-related macular degeneration (ARMD) is a common complex disorder that affects the central region of the retina (macula) and is the leading cause of legal blindness in white Americans over age 65. Contributions of environmental factors and genetic susceptibility have been identified. The strongest nongenetic risk factor for ARMD is cigarette smoking. For a general phenotypic description and a discussion of genetic heterogeneity of ARMD, see 603075. [from OMIM]

Additional description

From MedlinePlus Genetics
In 10 to 15 percent of affected individuals, the dry form progresses to the wet form of age-related macular degeneration. The wet form 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. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly.

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 most advanced stage of dry age-related macular degeneration is known as geographic atrophy, in which areas of the macula waste away (atrophy), resulting in severe vision loss. Dry age-related macular degeneration typically affects vision in both eyes, although vision loss often occurs in one eye before the other.

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 slow adjustment of vision to darkness (dark adaptation) and reduced dim light (scotopic) vision often occur in the early stages of the disease.

Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. Subtle abnormalities indicating changes in vision may occur in a person's forties or fifties. Distorted vision and vision loss usually become noticeable in a person's sixties or seventies and tend to worsen over time.  https://medlineplus.gov/genetics/condition/age-related-macular-degeneration

Professional guidelines

PubMed

Girgis S, Lee LR
Clin Exp Ophthalmol 2023 Nov;51(8):835-852. Epub 2023 Sep 22 doi: 10.1111/ceo.14294. PMID: 37737509
Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM
Am J Hum Genet 2022 Mar 3;109(3):498-507. Epub 2022 Feb 3 doi: 10.1016/j.ajhg.2022.01.008. PMID: 35120629Free PMC Article
Rehak M, Wiedemann P
J Thromb Haemost 2010 Sep;8(9):1886-94. doi: 10.1111/j.1538-7836.2010.03909.x. PMID: 20492457

Suggested Reading

PubMed

Awh CC, Lane AM, Hawken S, Zanke B, Kim IK
Ophthalmology 2013 Nov;120(11):2317-23. Epub 2013 Aug 21 doi: 10.1016/j.ophtha.2013.07.039. PMID: 23972322

Recent clinical studies

Etiology

Maruyama-Inoue M, Yanagi Y, Inoue T, Kadonosono K
Graefes Arch Clin Exp Ophthalmol 2024 Feb;262(2):589-599. Epub 2023 Sep 26 doi: 10.1007/s00417-023-06241-8. PMID: 37750953Free PMC Article
Pameijer EM, Heus P, Damen JAA, Spijker R, Hooft L, Ringens PJ, Imhof SM, van Leeuwen R
Acta Ophthalmol 2022 Dec;100(8):e1541-e1552. Epub 2022 Jun 13 doi: 10.1111/aos.15191. PMID: 35695158Free PMC Article
Thomas CJ, Mirza RG, Gill MK
Med Clin North Am 2021 May;105(3):473-491. Epub 2021 Apr 2 doi: 10.1016/j.mcna.2021.01.003. PMID: 33926642
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Cheung LK, Eaton A
Pharmacotherapy 2013 Aug;33(8):838-55. Epub 2013 Apr 11 doi: 10.1002/phar.1264. PMID: 23580402

Diagnosis

Maruyama-Inoue M, Yanagi Y, Inoue T, Kadonosono K
Graefes Arch Clin Exp Ophthalmol 2024 Feb;262(2):589-599. Epub 2023 Sep 26 doi: 10.1007/s00417-023-06241-8. PMID: 37750953Free PMC Article
Kataoka K, Itagaki K, Hashiya N, Wakugawa S, Tanaka K, Nakayama M, Yamamoto A, Mukai R, Honjyo J, Maruko I, Kawai M, Miyara Y, Terao N, Wakatsuki Y, Onoe H, Mori R, Koizumi H, Sekiryu T, Iida T, Okada AA; for Japan AMD Research Consortium (JARC)
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):43-51. Epub 2023 Sep 5 doi: 10.1007/s00417-023-06222-x. PMID: 37668741
Thomas CJ, Mirza RG, Gill MK
Med Clin North Am 2021 May;105(3):473-491. Epub 2021 Apr 2 doi: 10.1016/j.mcna.2021.01.003. PMID: 33926642
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article

Therapy

Maruyama-Inoue M, Yanagi Y, Inoue T, Kadonosono K
Graefes Arch Clin Exp Ophthalmol 2024 Feb;262(2):589-599. Epub 2023 Sep 26 doi: 10.1007/s00417-023-06241-8. PMID: 37750953Free PMC Article
Girgis S, Lee LR
Clin Exp Ophthalmol 2023 Nov;51(8):835-852. Epub 2023 Sep 22 doi: 10.1111/ceo.14294. PMID: 37737509
Pameijer EM, Heus P, Damen JAA, Spijker R, Hooft L, Ringens PJ, Imhof SM, van Leeuwen R
Acta Ophthalmol 2022 Dec;100(8):e1541-e1552. Epub 2022 Jun 13 doi: 10.1111/aos.15191. PMID: 35695158Free PMC Article
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Cheung LK, Eaton A
Pharmacotherapy 2013 Aug;33(8):838-55. Epub 2013 Apr 11 doi: 10.1002/phar.1264. PMID: 23580402

Prognosis

Kataoka K, Itagaki K, Hashiya N, Wakugawa S, Tanaka K, Nakayama M, Yamamoto A, Mukai R, Honjyo J, Maruko I, Kawai M, Miyara Y, Terao N, Wakatsuki Y, Onoe H, Mori R, Koizumi H, Sekiryu T, Iida T, Okada AA; for Japan AMD Research Consortium (JARC)
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):43-51. Epub 2023 Sep 5 doi: 10.1007/s00417-023-06222-x. PMID: 37668741
Jaffe GJ, Westby K, Csaky KG, Monés J, Pearlman JA, Patel SS, Joondeph BC, Randolph J, Masonson H, Rezaei KA
Ophthalmology 2021 Apr;128(4):576-586. Epub 2020 Sep 1 doi: 10.1016/j.ophtha.2020.08.027. PMID: 32882310
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Pinna A, Zaccheddu F, Boscia F, Carru C, Solinas G
Acta Ophthalmol 2018 May;96(3):e269-e276. Epub 2016 Dec 14 doi: 10.1111/aos.13343. PMID: 27966830
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. PMID: 25458728

Clinical prediction guides

Kataoka K, Itagaki K, Hashiya N, Wakugawa S, Tanaka K, Nakayama M, Yamamoto A, Mukai R, Honjyo J, Maruko I, Kawai M, Miyara Y, Terao N, Wakatsuki Y, Onoe H, Mori R, Koizumi H, Sekiryu T, Iida T, Okada AA; for Japan AMD Research Consortium (JARC)
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):43-51. Epub 2023 Sep 5 doi: 10.1007/s00417-023-06222-x. PMID: 37668741
Gabrielle PH, Delyfer MN, Glacet-Bernard A, Conart JB, Uzzan J, Kodjikian L, Arndt C, Tadayoni R, Soudry-Faure A, Creuzot Garcher CP
Ophthalmology 2023 Sep;130(9):947-957. Epub 2023 Apr 22 doi: 10.1016/j.ophtha.2023.04.014. PMID: 37088447
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
Markowitz SN, Devenyi RG, Munk MR, Croissant CL, Tedford SE, Rückert R, Walker MG, Patino BE, Chen L, Nido M, Tedford CE
Retina 2020 Aug;40(8):1471-1482. doi: 10.1097/IAE.0000000000002632. PMID: 31404033Free PMC Article
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

Recent systematic reviews

Tzoumas N, Riding G, Williams MA, Steel DH
Cochrane Database Syst Rev 2023 Jun 14;6(6):CD009300. doi: 10.1002/14651858.CD009300.pub3. PMID: 37314061Free PMC Article
Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
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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