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Age-related macular degeneration(ARMD)

MedGen UID:
116576
Concept ID:
C0242383
Disease or Syndrome
Synonyms: AMD; ARMD; MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF; Senile macular degeneration
SNOMED CT: AAMD - Age related macular degeneration (267718000); Age related macular degeneration (267718000); Age-related macular degeneration (267718000); ARMD - Age-related macular degeneration (267718000); Senile macular retinal degeneration (267718000); SMD - Senile macular degeneration (267718000); AMD - Age-related macular degeneration (267718000); Senile macular degeneration (267718000)
 
Related genes: ARMS2, RAX2, HMCN1, CFHR3, FBLN5, HTRA1, CFHR1, CFH, ERCC6, CST3, C3, APOE, ABCA4
OMIM®: 590050
OMIM® Phenotypic series: PS603075

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 GHR]

Suggested Reading

PubMed

Awh CC, Lane AM, Hawken S, Zanke B, Kim IK
Ophthalmology 2013 Nov;120(11):2317-23. Epub 2013 Aug 21 doi: 10.1016/j.ophtha.2013.07.039. PMID: 23972322

Recent clinical studies

Etiology

Farinha CVL, Cachulo ML, Alves D, Pires I, Marques JP, Barreto P, Nunes S, Costa J, Martins A, Sobral I, Laíns I, Figueira J, Ribeiro L, Cunha-Vaz J, Silva R
Ophthalmic Res 2019;61(4):226-235. Epub 2019 Mar 1 doi: 10.1159/000496393. PMID: 30820012
Pead E, Megaw R, Cameron J, Fleming A, Dhillon B, Trucco E, MacGillivray T
Surv Ophthalmol 2019 Jul - Aug;64(4):498-511. Epub 2019 Feb 14 doi: 10.1016/j.survophthal.2019.02.003. PMID: 30772363Free PMC Article
Scotti F, Milani P, Setaccioli M, Maestroni S, Sidenius N, De Lorenzi V, Massacesi A, Bergamini F, Zerbini G
Graefes Arch Clin Exp Ophthalmol 2019 May;257(5):899-903. Epub 2019 Jan 7 doi: 10.1007/s00417-018-04230-w. PMID: 30617582
Dag MY, Afrashi F, Nalcaci S, Mentes J, Akkin C
Eur J Ophthalmol 2019 Nov;29(6):615-620. Epub 2018 Oct 3 doi: 10.1177/1120672118803831. PMID: 30280594
Oszajca K, Szemraj M, Szemraj J, Jurowski P
Ophthalmic Genet 2018 Dec;39(6):684-698. Epub 2018 Oct 5 doi: 10.1080/13816810.2018.1525752. PMID: 30289322

Diagnosis

Abdin AD, Suffo S, Asi F, Langenbucher A, Seitz B
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1671-1677. Epub 2019 May 29 doi: 10.1007/s00417-019-04360-9. PMID: 31144055
Pead E, Megaw R, Cameron J, Fleming A, Dhillon B, Trucco E, MacGillivray T
Surv Ophthalmol 2019 Jul - Aug;64(4):498-511. Epub 2019 Feb 14 doi: 10.1016/j.survophthal.2019.02.003. PMID: 30772363Free PMC Article
Scotti F, Milani P, Setaccioli M, Maestroni S, Sidenius N, De Lorenzi V, Massacesi A, Bergamini F, Zerbini G
Graefes Arch Clin Exp Ophthalmol 2019 May;257(5):899-903. Epub 2019 Jan 7 doi: 10.1007/s00417-018-04230-w. PMID: 30617582
Dag MY, Afrashi F, Nalcaci S, Mentes J, Akkin C
Eur J Ophthalmol 2019 Nov;29(6):615-620. Epub 2018 Oct 3 doi: 10.1177/1120672118803831. PMID: 30280594
Oszajca K, Szemraj M, Szemraj J, Jurowski P
Ophthalmic Genet 2018 Dec;39(6):684-698. Epub 2018 Oct 5 doi: 10.1080/13816810.2018.1525752. PMID: 30289322

Therapy

Inan S, Polat O, Karadas M, Inan UU
Rom J Ophthalmol 2019 Jul-Sep;63(3):238-244. PMID: 31687625Free PMC Article
Abdin AD, Suffo S, Asi F, Langenbucher A, Seitz B
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1671-1677. Epub 2019 May 29 doi: 10.1007/s00417-019-04360-9. PMID: 31144055
Woo SJ, Cho GE, Cho JH
Korean J Ophthalmol 2019 Apr;33(2):150-166. doi: 10.3341/kjo.2018.0081. PMID: 30977325Free PMC Article
Papadopoulos Z
Eur J Ophthalmol 2019 Jul;29(4):368-378. Epub 2019 Feb 27 doi: 10.1177/1120672119832432. PMID: 30813810
Yan J, Peng X, Cai Y, Cong W
J Photochem Photobiol B 2018 Jun;183:133-136. Epub 2018 Apr 19 doi: 10.1016/j.jphotobiol.2018.04.033. PMID: 29704861

Prognosis

Inan S, Polat O, Karadas M, Inan UU
Rom J Ophthalmol 2019 Jul-Sep;63(3):238-244. PMID: 31687625Free PMC Article
Abdin AD, Suffo S, Asi F, Langenbucher A, Seitz B
Graefes Arch Clin Exp Ophthalmol 2019 Aug;257(8):1671-1677. Epub 2019 May 29 doi: 10.1007/s00417-019-04360-9. PMID: 31144055
Farinha CVL, Cachulo ML, Alves D, Pires I, Marques JP, Barreto P, Nunes S, Costa J, Martins A, Sobral I, Laíns I, Figueira J, Ribeiro L, Cunha-Vaz J, Silva R
Ophthalmic Res 2019;61(4):226-235. Epub 2019 Mar 1 doi: 10.1159/000496393. PMID: 30820012
Papadopoulos Z
Eur J Ophthalmol 2019 Jul;29(4):368-378. Epub 2019 Feb 27 doi: 10.1177/1120672119832432. PMID: 30813810
Scotti F, Milani P, Setaccioli M, Maestroni S, Sidenius N, De Lorenzi V, Massacesi A, Bergamini F, Zerbini G
Graefes Arch Clin Exp Ophthalmol 2019 May;257(5):899-903. Epub 2019 Jan 7 doi: 10.1007/s00417-018-04230-w. PMID: 30617582

Clinical prediction guides

Inan S, Polat O, Karadas M, Inan UU
Rom J Ophthalmol 2019 Jul-Sep;63(3):238-244. PMID: 31687625Free PMC Article
Woo SJ, Cho GE, Cho JH
Korean J Ophthalmol 2019 Apr;33(2):150-166. doi: 10.3341/kjo.2018.0081. PMID: 30977325Free PMC Article
Wang L, Zhang C, Hua R
Drug Des Devel Ther 2018;12:3625-3633. Epub 2018 Oct 29 doi: 10.2147/DDDT.S176021. PMID: 30464394Free PMC Article
Oszajca K, Szemraj M, Szemraj J, Jurowski P
Ophthalmic Genet 2018 Dec;39(6):684-698. Epub 2018 Oct 5 doi: 10.1080/13816810.2018.1525752. PMID: 30289322
Jelin E, Wisløff T, Moe MC, Heiberg T
Acta Ophthalmol 2018 Dec;96(8):804-811. Epub 2018 Sep 9 doi: 10.1111/aos.13847. PMID: 30198182

Recent systematic reviews

Niazi S, Krogh Nielsen M, Sørensen TL, Subhi Y
Acta Ophthalmol 2019 Sep;97(6):558-566. Epub 2019 Feb 27 doi: 10.1111/aos.14072. PMID: 30811869
Pead E, Megaw R, Cameron J, Fleming A, Dhillon B, Trucco E, MacGillivray T
Surv Ophthalmol 2019 Jul - Aug;64(4):498-511. Epub 2019 Feb 14 doi: 10.1016/j.survophthal.2019.02.003. PMID: 30772363Free PMC Article
Guo MY, Cheng J, Etminan M, Zafari Z, Maberley D
Acta Ophthalmol 2019 Feb;97(1):e1-e7. Epub 2018 Jul 21 doi: 10.1111/aos.13825. PMID: 30030923
Annweiler C, Drouet M, Duval GT, Paré PY, Leruez S, Dinomais M, Milea D
Maturitas 2016 Jun;88:101-12. Epub 2016 Apr 2 doi: 10.1016/j.maturitas.2016.04.002. PMID: 27105707
Kessel L, Erngaard D, Flesner P, Andresen J, Tendal B, Hjortdal J
Acta Ophthalmol 2015 Nov;93(7):593-600. Epub 2015 Jan 20 doi: 10.1111/aos.12665. PMID: 25601333Free PMC Article

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