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Age-related macular degeneration(ARMD)

MedGen UID:
116576
Concept ID:
C0242383
Disease or Syndrome
Synonyms: ARMD; MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
SNOMED CT: AAMD - Age related macular degeneration (267718000); Age related macular degeneration (267718000); Age-related macular degeneration (267718000); ARMD - Age-related macular degeneration (267718000); Senile macular retinal degeneration (267718000); SMD - Senile macular degeneration (267718000); AMD - Age-related macular degeneration (267718000); Senile macular degeneration (267718000)
 
Related genes: ARMS2, RAX2, HMCN1, CFHR3, FBLN5, HTRA1, CFI, CFHR1, CFH, ERCC6, CX3CR1, CST3, C9, C3, C2, CFB, APOE, ABCA4
 
Monarch Initiative: MONDO:0005150
OMIM®: 590050
OMIM® Phenotypic series: PS603075
Orphanet: ORPHA279

Definition

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.

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.

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.

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. [from MedlinePlus Genetics]

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
Flores R, Carneiro Â, Vieira M, Tenreiro S, Seabra MC
Ophthalmologica 2021;244(6):495-511. Epub 2021 Jun 15 doi: 10.1159/000517520. PMID: 34130290
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article

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

Nashine S
Cells 2021 Sep 19;10(9) doi: 10.3390/cells10092483. PMID: 34572131Free PMC Article
Flores R, Carneiro Â, Vieira M, Tenreiro S, Seabra MC
Ophthalmologica 2021;244(6):495-511. Epub 2021 Jun 15 doi: 10.1159/000517520. PMID: 34130290
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
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY
Lancet 2012 May 5;379(9827):1728-38. doi: 10.1016/S0140-6736(12)60282-7. PMID: 22559899

Diagnosis

Guymer RH, Campbell TG
Lancet 2023 Apr 29;401(10386):1459-1472. Epub 2023 Mar 27 doi: 10.1016/S0140-6736(22)02609-5. PMID: 36996856
Flores R, Carneiro Â, Vieira M, Tenreiro S, Seabra MC
Ophthalmologica 2021;244(6):495-511. Epub 2021 Jun 15 doi: 10.1159/000517520. PMID: 34130290
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
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
Lim LS, Mitchell P, Seddon JM, Holz FG, Wong TY
Lancet 2012 May 5;379(9827):1728-38. doi: 10.1016/S0140-6736(12)60282-7. PMID: 22559899

Therapy

Pugazhendhi A, Hubbell M, Jairam P, Ambati B
Int J Mol Sci 2021 Jan 25;22(3) doi: 10.3390/ijms22031170. PMID: 33504013Free 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
Ammar MJ, Hsu J, Chiang A, Ho AC, Regillo CD
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CATT Research Group, Martin DF, Maguire MG, Ying GS, Grunwald JE, Fine SL, Jaffe GJ
N Engl J Med 2011 May 19;364(20):1897-908. Epub 2011 Apr 28 doi: 10.1056/NEJMoa1102673. PMID: 21526923Free PMC Article

Prognosis

Inoda S, Takahashi H, Maruyama-Inoue M, Ikeda S, Sekiryu T, Itagaki K, Matsumoto H, Mukai R, Nagai Y, Ohnaka M, Kusuhara S, Miki A, Okada AA, Nakayama M, Nishiguchi KM, Takeuchi J, Mori R, Tanaka K, Honda S, Kohno T, Koizumi H, Miyara Y, Inoue Y, Takana H, Iida T, Maruko I, Hayashi A, Ueda-Consolvo T, Yanagi Y
Retina 2024 Apr 1;44(4):714-722. doi: 10.1097/IAE.0000000000004009. PMID: 38016089
Monés J, Srivastava SK, Jaffe GJ, Tadayoni R, Albini TA, Kaiser PK, Holz FG, Korobelnik JF, Kim IK, Pruente C, Murray TG, Heier JS
Ophthalmology 2021 Jul;128(7):1050-1059. Epub 2020 Nov 15 doi: 10.1016/j.ophtha.2020.11.011. PMID: 33207259
Mitchell P, Liew G, Gopinath B, Wong TY
Lancet 2018 Sep 29;392(10153):1147-1159. doi: 10.1016/S0140-6736(18)31550-2. PMID: 30303083
Tsai ASH, Cheung N, Gan ATL, Jaffe GJ, Sivaprasad S, Wong TY, Cheung CMG
Surv Ophthalmol 2017 Jul-Aug;62(4):462-492. Epub 2017 Feb 9 doi: 10.1016/j.survophthal.2017.01.008. PMID: 28189495
Mehta S
Prim Care 2015 Sep;42(3):377-91. doi: 10.1016/j.pop.2015.05.009. PMID: 26319344

Clinical prediction guides

Nguyen J, Brantley MA Jr, Schwartz SG
Front Biosci (Schol Ed) 2024 Feb 29;16(1):3. doi: 10.31083/j.fbs1601003. PMID: 38538345
He W, Han X, Ong JS, Wu Y, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S
Ophthalmology 2024 Jan;131(1):16-29. Epub 2023 Aug 25 doi: 10.1016/j.ophtha.2023.08.023. PMID: 37634759
Hikichi T
Jpn J Ophthalmol 2023 Nov;67(6):652-656. Epub 2023 Oct 20 doi: 10.1007/s10384-023-01024-4. PMID: 37861941
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
Rubin GS
Vision Res 2013 Sep 20;90:43-51. Epub 2013 Mar 16 doi: 10.1016/j.visres.2013.02.015. PMID: 23506967

Recent systematic reviews

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
Gheorghe A, Mahdi L, Musat O
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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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