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Age related macular degeneration 4(ARMD4)

MedGen UID:
339914
Concept ID:
C1853147
Disease or Syndrome
Synonym: Macular Degeneration, Age-Related, 4
 
Gene (location): CFH (1q31.3)
 
Monarch Initiative: MONDO:0012540
OMIM®: 610698

Definition

Age-related macular degeneration-4 (ARMD) is a disorder of the eye characterized by the formation of drusen on the retina, often as cuticular drusen which appear in a 'starry sky' distribution on fluorescein angiography. The disorder results in a progressive loss of central vision (summary by Hageman et al., 2005, Grassi et al., 2007). [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

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.

Professional guidelines

PubMed

Gomel N, Azem N, Baruch T, Hollander N, Rachmiel R, Kurtz S, Waisbourd M
Telemed J E Health 2022 Feb;28(2):233-239. Epub 2021 May 17 doi: 10.1089/tmj.2021.0098. PMID: 33999746
Pablo L, Beckford CA, Martin-Delgado J, Ferro Osuna M, Fernández-Ferreiro A, Fernández Rodriguez MI, Rodriguez Cid MJ, Méndez S, Torres A, Ignacio E, Mira JJ
Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov;96(11):578-586. Epub 2021 Oct 17 doi: 10.1016/j.oftale.2021.01.007. PMID: 34756279
Park SS, Daftari I, Phillips T, Morse LS
Retina 2012 May;32(5):956-66. doi: 10.1097/IAE.0b013e31822a8d6a. PMID: 22183743

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

Matsumoto H, Hoshino J, Nakamura K, Nagashima T, Akiyama H
Graefes Arch Clin Exp Ophthalmol 2023 Oct;261(10):2945-2952. Epub 2023 May 17 doi: 10.1007/s00417-023-06116-y. PMID: 37195339
Trivizki O, Wang L, Shi Y, Rabinovitch D, Iyer P, Gregori G, Feuer W, Rosenfeld PJ
Ophthalmol Retina 2023 Aug;7(8):672-682. Epub 2023 Mar 30 doi: 10.1016/j.oret.2023.03.016. PMID: 37003480Free PMC Article
Patel SS, Lally DR, Hsu J, Wykoff CC, Eichenbaum D, Heier JS, Jaffe GJ, Westby K, Desai D, Zhu L, Khanani AM
Eye (Lond) 2023 Dec;37(17):3551-3557. Epub 2023 Mar 24 doi: 10.1038/s41433-023-02497-w. PMID: 36964259Free 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
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Diagnosis

Matsumoto H, Hoshino J, Nakamura K, Nagashima T, Akiyama H
Graefes Arch Clin Exp Ophthalmol 2023 Oct;261(10):2945-2952. Epub 2023 May 17 doi: 10.1007/s00417-023-06116-y. PMID: 37195339
Trivizki O, Wang L, Shi Y, Rabinovitch D, Iyer P, Gregori G, Feuer W, Rosenfeld PJ
Ophthalmol Retina 2023 Aug;7(8):672-682. Epub 2023 Mar 30 doi: 10.1016/j.oret.2023.03.016. PMID: 37003480Free 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
Sadda SR, Guymer R, Holz FG, Schmitz-Valckenberg S, Curcio CA, Bird AC, Blodi BA, Bottoni F, Chakravarthy U, Chew EY, Csaky K, Danis RP, Fleckenstein M, Freund KB, Grunwald J, Hoyng CB, Jaffe GJ, Liakopoulos S, Monés JM, Pauleikhoff D, Rosenfeld PJ, Sarraf D, Spaide RF, Tadayoni R, Tufail A, Wolf S, Staurenghi G
Ophthalmology 2018 Apr;125(4):537-548. Epub 2017 Nov 2 doi: 10.1016/j.ophtha.2017.09.028. PMID: 29103793
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Therapy

Boyer D, Hu A, Warrow D, Xavier S, Gonzalez V, Lad E, Rosen RB, Do D, Schneiderman T, Ho A, Munk MR, Jaffe G, Tedford SE, Croissant CL, Walker M, Rückert R, Tedford CE
Retina 2024 Mar 1;44(3):487-497. doi: 10.1097/IAE.0000000000003980. PMID: 37972955Free PMC Article
Woo SJ, Bradvica M, Vajas A, Sagong M, Ernest J, Studnicka J, Veith M, Wylegala E, Patel S, Yun C, Orski M, Astakhov S, Tóth-Molnár E, Csutak A, Enyedi L, Kim T, Oh I, Jang H, Sadda SR
JAMA Ophthalmol 2023 Jul 1;141(7):668-676. doi: 10.1001/jamaophthalmol.2023.2260. PMID: 37289448Free PMC Article
Patel SS, Lally DR, Hsu J, Wykoff CC, Eichenbaum D, Heier JS, Jaffe GJ, Westby K, Desai D, Zhu L, Khanani AM
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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
da Cruz L, Fynes K, Georgiadis O, Kerby J, Luo YH, Ahmado A, Vernon A, Daniels JT, Nommiste B, Hasan SM, Gooljar SB, Carr AF, Vugler A, Ramsden CM, Bictash M, Fenster M, Steer J, Harbinson T, Wilbrey A, Tufail A, Feng G, Whitlock M, Robson AG, Holder GE, Sagoo MS, Loudon PT, Whiting P, Coffey PJ
Nat Biotechnol 2018 Apr;36(4):328-337. Epub 2018 Mar 19 doi: 10.1038/nbt.4114. PMID: 29553577

Prognosis

Romano F, Cozzi E, Airaldi M, Nassisi M, Viola F, Aretti A, Milella P, Giuffrida FP, Teo KCY, Cheung CMG, Staurenghi G, Invernizzi A
Am J Ophthalmol 2023 Aug;252:170-181. Epub 2023 Apr 7 doi: 10.1016/j.ajo.2023.03.033. PMID: 37030492
Zhou M, Duan PC, Liang JH, Zhang XF, Pan CW
Br J Ophthalmol 2021 Oct;105(10):1427-1434. Epub 2020 Sep 9 doi: 10.1136/bjophthalmol-2020-316820. PMID: 32907810
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
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
SanGiovanni JP, Chew EY
Cold Spring Harb Perspect Med 2014 Aug 14;4(10) doi: 10.1101/cshperspect.a017228. PMID: 25125423Free PMC Article

Clinical prediction guides

Boyer D, Hu A, Warrow D, Xavier S, Gonzalez V, Lad E, Rosen RB, Do D, Schneiderman T, Ho A, Munk MR, Jaffe G, Tedford SE, Croissant CL, Walker M, Rückert R, Tedford CE
Retina 2024 Mar 1;44(3):487-497. doi: 10.1097/IAE.0000000000003980. PMID: 37972955Free PMC Article
Trivizki O, Wang L, Shi Y, Rabinovitch D, Iyer P, Gregori G, Feuer W, Rosenfeld PJ
Ophthalmol Retina 2023 Aug;7(8):672-682. Epub 2023 Mar 30 doi: 10.1016/j.oret.2023.03.016. PMID: 37003480Free PMC Article
Zhou M, Duan PC, Liang JH, Zhang XF, Pan CW
Br J Ophthalmol 2021 Oct;105(10):1427-1434. Epub 2020 Sep 9 doi: 10.1136/bjophthalmol-2020-316820. PMID: 32907810
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
Ferris FL 3rd, Wilkinson CP, Bird A, Chakravarthy U, Chew E, Csaky K, Sadda SR; Beckman Initiative for Macular Research Classification Committee
Ophthalmology 2013 Apr;120(4):844-51. Epub 2013 Jan 16 doi: 10.1016/j.ophtha.2012.10.036. PMID: 23332590

Recent systematic reviews

Tzoumas N, Riding G, Williams MA, Steel DH
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JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free 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
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free 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

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