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Age related macular degeneration 12(ARMD12)

MedGen UID:
462429
Concept ID:
C3151079
Disease or Syndrome
Synonyms: ARMD12; MACULAR DEGENERATION, AGE-RELATED, 12
 
Gene (location): CX3CR1 (3p22.2)
 
Monarch Initiative: MONDO:0013420
OMIM®: 613784

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

Wachtlin J, Eter N, Hasanbasic Z, Keramas G, Rech C, Sachs H, Schilling H, Wiedemann P, Framme C
Graefes Arch Clin Exp Ophthalmol 2021 Mar;259(3):601-611. Epub 2020 Aug 13 doi: 10.1007/s00417-020-04803-8. PMID: 32789651Free PMC Article
Klufas MA, Yannuzzi NA, Pang CE, Srinivas S, Sadda SR, Freund KB, Kiss S
Retina 2015 Mar;35(3):508-20. doi: 10.1097/IAE.0000000000000318. PMID: 25250480
Gillies MC, Walton R, Simpson JM, Arnold JJ, Guymer RH, McAllister IL, Hunyor AP, Essex RW, Morlet N, Barthelmes D; Fight Retinal Blindness! Project Investigators
Invest Ophthalmol Vis Sci 2013 Aug 27;54(8):5754-60. doi: 10.1167/iovs.13-11993. PMID: 23821201

Recent clinical studies

Etiology

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
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
Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733Free PMC Article

Diagnosis

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
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: 29103793Free PMC Article
Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733Free PMC Article

Therapy

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Chew EY, Clemons TE, Agrón E, Domalpally A, Keenan TDL, Vitale S, Weber C, Smith DC, Christen W; AREDS2 Research Group
JAMA Ophthalmol 2022 Jul 1;140(7):692-698. doi: 10.1001/jamaophthalmol.2022.1640. PMID: 35653117Free 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
Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733Free PMC Article

Prognosis

Matsumoto H, Hoshino J, Nakamura K, Akiyama H
Jpn J Ophthalmol 2024 Mar;68(2):83-90. Epub 2024 Jan 20 doi: 10.1007/s10384-023-01040-4. PMID: 38244172
Chew EY, Clemons TE, Agrón E, Domalpally A, Keenan TDL, Vitale S, Weber C, Smith DC, Christen W; AREDS2 Research Group
JAMA Ophthalmol 2022 Jul 1;140(7):692-698. doi: 10.1001/jamaophthalmol.2022.1640. PMID: 35653117Free 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
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
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

Clinical prediction guides

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Jiang L, Li JC, Tang BS, Guo JF, Shen L
Alzheimers Dement 2022 Dec;18(12):2725-2729. Epub 2022 Aug 25 doi: 10.1002/alz.12775. PMID: 36016508
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
Al-Zamil WM, Yassin SA
Clin Interv Aging 2017;12:1313-1330. Epub 2017 Aug 22 doi: 10.2147/CIA.S143508. PMID: 28860733Free 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

Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free 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
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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