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Age related macular degeneration 11(ARMD11)

MedGen UID:
393833
Concept ID:
C2677774
Disease or Syndrome
Synonyms: ARMD11; Macular Degeneration, Age-Related, 11
 
Gene (location): CST3 (20p11.21)
 
Monarch Initiative: MONDO:0012767
OMIM®: 611953

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]

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

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
ElSheikh RH, Chauhan MZ, Sallam AB
Biomolecules 2022 Nov 3;12(11) doi: 10.3390/biom12111629. PMID: 36358978Free PMC Article
Chauhan MZ, Rather PA, Samarah SM, Elhusseiny AM, Sallam AB
Cells 2022 Jun 17;11(12) doi: 10.3390/cells11121950. PMID: 35741079Free PMC Article

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
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
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
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
Williams MA, McKay GJ, Chakravarthy U
Cochrane Database Syst Rev 2014 Jan 15;2014(1):CD009300. doi: 10.1002/14651858.CD009300.pub2. PMID: 24431152Free PMC Article

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
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
Baumal CR, Sørensen TL, Karcher H, Freitas RL, Becher A, Balez S, Clemens A, Singer M, Kodjikian L
Acta Ophthalmol 2023 Mar;101(2):123-139. Epub 2022 Sep 18 doi: 10.1111/aos.15242. PMID: 36117281
Dave AD, Hess K, Chen KG, Wiley H, Keenan TDL, Agrón E, Chew EY, Cukras CA
Transl Vis Sci Technol 2022 Dec 1;11(12):11. doi: 10.1167/tvst.11.12.11. PMID: 36525252Free 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

Therapy

Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
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
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
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
Age-Related Eye Disease Study Research Group
Arch Ophthalmol 2001 Oct;119(10):1417-36. doi: 10.1001/archopht.119.10.1417. PMID: 11594942Free PMC Article

Prognosis

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
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
Zhang QY, Tie LJ, Wu SS, Lv PL, Huang HW, Wang WQ, Wang H, Ma L
Invest Ophthalmol Vis Sci 2016 Mar;57(3):1276-83. doi: 10.1167/iovs.15-18637. PMID: 26990164
Fernandez AB, Panza GA, Cramer B, Chatterjee S, Jayaraman R, Wu WC
PLoS One 2015;10(11):e0142968. Epub 2015 Nov 18 doi: 10.1371/journal.pone.0142968. PMID: 26580396Free PMC Article

Clinical prediction guides

Heier JS, Lad EM, Holz FG, Rosenfeld PJ, Guymer RH, Boyer D, Grossi F, Baumal CR, Korobelnik JF, Slakter JS, Waheed NK, Metlapally R, Pearce I, Steinle N, Francone AA, Hu A, Lally DR, Deschatelets P, Francois C, Bliss C, Staurenghi G, Monés J, Singh RP, Ribeiro R, Wykoff CC; OAKS and DERBY study investigators
Lancet 2023 Oct 21;402(10411):1434-1448. doi: 10.1016/S0140-6736(23)01520-9. PMID: 37865470
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
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
Liao DS, Grossi FV, El Mehdi D, Gerber MR, Brown DM, Heier JS, Wykoff CC, Singerman LJ, Abraham P, Grassmann F, Nuernberg P, Weber BHF, Deschatelets P, Kim RY, Chung CY, Ribeiro RM, Hamdani M, Rosenfeld PJ, Boyer DS, Slakter JS, Francois CG
Ophthalmology 2020 Feb;127(2):186-195. Epub 2019 Jul 16 doi: 10.1016/j.ophtha.2019.07.011. PMID: 31474439
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

Evans JR, Lawrenson JG
Cochrane Database Syst Rev 2023 Sep 13;9(9):CD000254. doi: 10.1002/14651858.CD000254.pub5. PMID: 37702300Free PMC Article
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
Finger RP, Dennis N, Freitas R, Quenéchdu A, Clemens A, Karcher H, Souied EH
Adv Ther 2022 Aug;39(8):3425-3448. Epub 2022 Jun 9 doi: 10.1007/s12325-022-02193-3. PMID: 35678996Free 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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