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Age related macular degeneration 5(ARMD5)

MedGen UID:
462413
Concept ID:
C3151063
Disease or Syndrome
Synonyms: ARMD5; MACULAR DEGENERATION, AGE-RELATED, 5
 
Gene (location): ERCC6 (10q11.23)
 
Monarch Initiative: MONDO:0013409
OMIM®: 613761

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

Roh MI, Kim HS, Song JH, Lim JB, Koh HJ, Kwon OW
Retina 2009 Apr;29(4):523-9. doi: 10.1097/IAE.0b013e318195cb15. PMID: 19262441

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
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
Mori R, Honda S, Gomi F, Tsujikawa A, Koizumi H, Ochi H, Ohsawa S, Okada AA; TENAYA and LUCERNE Investigators
Jpn J Ophthalmol 2023 May;67(3):301-310. Epub 2023 Apr 11 doi: 10.1007/s10384-023-00985-w. PMID: 37039948Free PMC Article
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
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

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Mori R, Honda S, Gomi F, Tsujikawa A, Koizumi H, Ochi H, Ohsawa S, Okada AA; TENAYA and LUCERNE Investigators
Jpn J Ophthalmol 2023 May;67(3):301-310. Epub 2023 Apr 11 doi: 10.1007/s10384-023-00985-w. PMID: 37039948Free PMC Article
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
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

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Mori R, Honda S, Gomi F, Tsujikawa A, Koizumi H, Ochi H, Ohsawa S, Okada AA; TENAYA and LUCERNE Investigators
Jpn J Ophthalmol 2023 May;67(3):301-310. Epub 2023 Apr 11 doi: 10.1007/s10384-023-00985-w. PMID: 37039948Free 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
Boyer DS, Schmidt-Erfurth U, van Lookeren Campagne M, Henry EC, Brittain C
Retina 2017 May;37(5):819-835. doi: 10.1097/IAE.0000000000001392. PMID: 27902638Free PMC Article

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
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
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
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

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
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
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
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
Cochrane Database Syst Rev 2023 Jun 14;6(6):CD009300. doi: 10.1002/14651858.CD009300.pub3. PMID: 37314061Free 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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