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Age related macular degeneration 13(ARMD13)

MedGen UID:
815853
Concept ID:
C3809523
Disease or Syndrome
Synonyms: ARMD13; MACULAR DEGENERATION, AGE-RELATED, 13
 
Gene (location): CFI (4q25)
 
Monarch Initiative: MONDO:0014189
OMIM®: 615439

Definition

Age-related macular degeneration (ARMD) is a multifactorial disorder of the central retina that is the most prevalent cause of progressive vision loss in the developed world. As in other chronic age-related diseases, most cases result from interplay between multiple environmental and genetic factors, with a resultant spectrum of phenotypes. In rare cases, ARMD may manifest early, but there is an exponential rise in prevalence after the age of 60 years (summary by Pras et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration (ARMD), see 603075. [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/age-related-macular-degeneration

Clinical features

From HPO
Macular scar
MedGen UID:
140842
Concept ID:
C0423428
Acquired Abnormality
Scar tissue in the macula.
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.
Choroidal neovascularization
MedGen UID:
154726
Concept ID:
C0600518
Pathologic Function
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
Drusen
MedGen UID:
488956
Concept ID:
C1260959
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.

Professional guidelines

PubMed

Li Y, Yip M, Ning Y, Chung J, Toh A, Leow C, Liu N, Ting D, Schmetterer L, Saw SM, Jonas JB, Chia A, Ang M
JAMA Ophthalmol 2024 Jan 1;142(1):15-23. doi: 10.1001/jamaophthalmol.2023.5467. PMID: 38019503Free PMC Article
Munk MR, Somfai GM, de Smet MD, Donati G, Menke MN, Garweg JG, Ceklic L
Int J Mol Sci 2022 Jul 8;23(14) doi: 10.3390/ijms23147585. PMID: 35886930Free PMC Article
Liao DS, Metlapally R, Joshi P
Immunotherapy 2022 Sep;14(13):995-1006. Epub 2022 Jul 21 doi: 10.2217/imt-2022-0078. PMID: 35860926

Recent clinical studies

Etiology

Aggarwal S, Moir J, Hyman MJ, Kaufmann GT, Flores A, Hariprasad SM, Skondra D
JAMA Ophthalmol 2024 Jan 1;142(1):53-57. doi: 10.1001/jamaophthalmol.2023.5478. PMID: 38019527Free PMC Article
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
Emilsson V, Gudmundsson EF, Jonmundsson T, Jonsson BG, Twarog M, Gudmundsdottir V, Li Z, Finkel N, Poor S, Liu X, Esterberg R, Zhang Y, Jose S, Huang CL, Liao SM, Loureiro J, Zhang Q, Grosskreutz CL, Nguyen AA, Huang Q, Leehy B, Pitts R, Aspelund T, Lamb JR, Jonasson F, Launer LJ, Cotch MF, Jennings LL, Gudnason V, Walshe TE
Nat Commun 2022 Jun 13;13(1):3401. doi: 10.1038/s41467-022-31085-x. PMID: 35697682Free PMC Article
Pameijer EM, Heus P, Damen JAA, Spijker R, Hooft L, Ringens PJ, Imhof SM, van Leeuwen R
Acta Ophthalmol 2022 Dec;100(8):e1541-e1552. Epub 2022 Jun 13 doi: 10.1111/aos.15191. PMID: 35695158Free PMC Article
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

Diagnosis

Aggarwal S, Moir J, Hyman MJ, Kaufmann GT, Flores A, Hariprasad SM, Skondra D
JAMA Ophthalmol 2024 Jan 1;142(1):53-57. doi: 10.1001/jamaophthalmol.2023.5478. PMID: 38019527Free PMC Article
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
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
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

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
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
Pameijer EM, Heus P, Damen JAA, Spijker R, Hooft L, Ringens PJ, Imhof SM, van Leeuwen R
Acta Ophthalmol 2022 Dec;100(8):e1541-e1552. Epub 2022 Jun 13 doi: 10.1111/aos.15191. PMID: 35695158Free PMC Article
Rosenfeld PJ, Brown DM, Heier JS, Boyer DS, Kaiser PK, Chung CY, Kim RY; MARINA Study Group
N Engl J Med 2006 Oct 5;355(14):1419-31. doi: 10.1056/NEJMoa054481. PMID: 17021318
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

Tamiya R, Hata M, Tanaka A, Tsuchikawa M, Ueda-Arakawa N, Tamura H, Miyata M, Takahashi A, Kido A, Muraoka Y, Miyake M, Ooto S, Tsujikawa A
Sci Rep 2023 Nov 30;13(1):21128. doi: 10.1038/s41598-023-48190-6. PMID: 38036627Free PMC Article
Emilsson V, Gudmundsson EF, Jonmundsson T, Jonsson BG, Twarog M, Gudmundsdottir V, Li Z, Finkel N, Poor S, Liu X, Esterberg R, Zhang Y, Jose S, Huang CL, Liao SM, Loureiro J, Zhang Q, Grosskreutz CL, Nguyen AA, Huang Q, Leehy B, Pitts R, Aspelund T, Lamb JR, Jonasson F, Launer LJ, Cotch MF, Jennings LL, Gudnason V, Walshe TE
Nat Commun 2022 Jun 13;13(1):3401. doi: 10.1038/s41467-022-31085-x. PMID: 35697682Free PMC Article
McGuinness MB, Karahalios A, Finger RP, Guymer RH, Simpson JA
Ophthalmic Epidemiol 2017 Jun;24(3):141-152. Epub 2017 Jan 31 doi: 10.1080/09286586.2016.1259422. PMID: 28139151
Schwartz SD, Regillo CD, Lam BL, Eliott D, Rosenfeld PJ, Gregori NZ, Hubschman JP, Davis JL, Heilwell G, Spirn M, Maguire J, Gay R, Bateman J, Ostrick RM, Morris D, Vincent M, Anglade E, Del Priore LV, Lanza R
Lancet 2015 Feb 7;385(9967):509-16. Epub 2014 Oct 15 doi: 10.1016/S0140-6736(14)61376-3. PMID: 25458728
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

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
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
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
Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium
Ophthalmology 2017 Dec;124(12):1753-1763. Epub 2017 Jul 14 doi: 10.1016/j.ophtha.2017.05.035. PMID: 28712657Free 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

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
Pameijer EM, Heus P, Damen JAA, Spijker R, Hooft L, Ringens PJ, Imhof SM, van Leeuwen R
Acta Ophthalmol 2022 Dec;100(8):e1541-e1552. Epub 2022 Jun 13 doi: 10.1111/aos.15191. PMID: 35695158Free 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

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