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Age related macular degeneration 14(ARMD14)

MedGen UID:
815983
Concept ID:
C3809653
Disease or Syndrome
Synonym: MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
 
Genes (locations): C2 (6p21.33); CFB (6p21.33)
 
Monarch Initiative: MONDO:0014207
OMIM®: 615489

Definition

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

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
Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free PMC Article

Recent clinical studies

Etiology

Hikichi T
Jpn J Ophthalmol 2023 Nov;67(6):652-656. Epub 2023 Oct 20 doi: 10.1007/s10384-023-01024-4. PMID: 37861941
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
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

Diagnosis

Hikichi T
Jpn J Ophthalmol 2023 Nov;67(6):652-656. Epub 2023 Oct 20 doi: 10.1007/s10384-023-01024-4. PMID: 37861941
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
Woo SJ, Veith M, Hamouz J, Ernest J, Zalewski D, Studnicka J, Vajas A, Papp A, Gabor V, Luu J, Matuskova V, Yoon YH, Pregun T, Kim T, Shin D, Bressler NM
JAMA Ophthalmol 2021 Jan 1;139(1):68-76. doi: 10.1001/jamaophthalmol.2020.5053. PMID: 33211076Free 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

Therapy

Chung H, Kim C
Aging (Albany NY) 2022 Jul 16;14(14):5614-5616. doi: 10.18632/aging.204187. PMID: 35849498Free 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
Yang S, Li T, Jia H, Gao M, Li Y, Wan X, Huang Z, Li M, Zhai Y, Li X, Yang X, Wang T, Liang J, Gu Q, Luo X, Qian L, Lu S, Liu J, Song Y, Wang F, Sun X, Yu D
Sci Transl Med 2022 Jun;14(647):eabj2177. Epub 2022 Jun 1 doi: 10.1126/scitranslmed.abj2177. PMID: 35648811
Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free 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

Prognosis

Jeong H, Shaia JK, Markle JC, Talcott KE, Singh RP
JAMA Ophthalmol 2024 Jul 1;142(7):648-654. doi: 10.1001/jamaophthalmol.2024.1822. PMID: 38842832Free PMC Article
Hikichi T
Jpn J Ophthalmol 2023 Nov;67(6):652-656. Epub 2023 Oct 20 doi: 10.1007/s10384-023-01024-4. PMID: 37861941
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
Ricci F, Bandello F, Navarra P, Staurenghi G, Stumpp M, Zarbin M
Int J Mol Sci 2020 Nov 3;21(21) doi: 10.3390/ijms21218242. PMID: 33153227Free PMC Article
Li JQ, Welchowski T, Schmid M, Mauschitz MM, Holz FG, Finger RP
Br J Ophthalmol 2020 Aug;104(8):1077-1084. Epub 2019 Nov 11 doi: 10.1136/bjophthalmol-2019-314422. PMID: 31712255

Clinical prediction guides

Hikichi T
Jpn J Ophthalmol 2023 Nov;67(6):652-656. Epub 2023 Oct 20 doi: 10.1007/s10384-023-01024-4. PMID: 37861941
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
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
Porta M, Striglia E
Intern Emerg Med 2020 Mar;15(2):199-210. Epub 2019 Dec 17 doi: 10.1007/s11739-019-02253-7. PMID: 31848994
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

Yen WT, Wu CS, Yang CH, Chen YH, Lee CH, Hsu CR
Sci Rep 2024 Jan 30;14(1):2485. doi: 10.1038/s41598-024-52942-3. PMID: 38291069Free 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
Li JQ, Welchowski T, Schmid M, Mauschitz MM, Holz FG, Finger RP
Br J Ophthalmol 2020 Aug;104(8):1077-1084. Epub 2019 Nov 11 doi: 10.1136/bjophthalmol-2019-314422. PMID: 31712255
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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