U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Age related macular degeneration 2(ARMD2)

MedGen UID:
501183
Concept ID:
C3495438
Disease or Syndrome
Synonyms: MACULAR DEGENERATION, SENILE; MACULOPATHY, AGE-RELATED; MACULOPATHY, AGE-RELATED, 2
 
Gene (location): ABCA4 (1p22.1)
 
Monarch Initiative: MONDO:0007932
OMIM®: 153800

Definition

Age-related macular degeneration-2 (ARMD2) is a complex disorder characterized by the accumulation of drusen in and under the retinal pigment epithelium (RPE) and the progressive atrophy of the macular RPE. These changes result in loss of photoreceptor function and vision impairment. Environmental risk factors include cigarette smoking, diet, and cholesterol level (summary by Allikmets et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see 603075. [from OMIM]

Additional description

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

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

Wakuta M, Nomi N, Ogata T, Ota M, Yamashiro C, Hatano M, Yanai R, Tokuda K, Kimura K
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1663-1670. Epub 2020 May 21 doi: 10.1007/s00417-020-04745-1. PMID: 32436085

Recent clinical studies

Etiology

Emamverdi M, Vatanatham C, Fasih-Ahmad S, Wang Z, Mishra Z, Jain A, Ganegoda A, Clark ME, Habibi A, Ashrafkhorasani M, Owsley C, Curcio CA, Hu ZJ, Sadda SR
Invest Ophthalmol Vis Sci 2024 May 1;65(5):17. doi: 10.1167/iovs.65.5.17. PMID: 38717424Free PMC Article
Kar D, Corradetti G, Swain TA, Clark ME, McGwin G Jr, Owsley C, Sadda SR, Curcio CA
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):41. doi: 10.1167/iovs.64.12.41. PMID: 37768273Free PMC Article
Owsley C, Swain TA, McGwin G Jr, Clark ME, Kar D, Crosson JN, Curcio CA
Transl Vis Sci Technol 2022 Jul 8;11(7):17. doi: 10.1167/tvst.11.7.17. PMID: 35861686Free PMC Article
Nordestgaard LT, Tybjærg-Hansen A, Frikke-Schmidt R, Nordestgaard BG
J Clin Endocrinol Metab 2021 Jun 16;106(7):e2749-e2758. doi: 10.1210/clinem/dgab095. PMID: 33596319
Wakuta M, Nomi N, Ogata T, Ota M, Yamashiro C, Hatano M, Yanai R, Tokuda K, Kimura K
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1663-1670. Epub 2020 May 21 doi: 10.1007/s00417-020-04745-1. PMID: 32436085

Diagnosis

Emamverdi M, Vatanatham C, Fasih-Ahmad S, Wang Z, Mishra Z, Jain A, Ganegoda A, Clark ME, Habibi A, Ashrafkhorasani M, Owsley C, Curcio CA, Hu ZJ, Sadda SR
Invest Ophthalmol Vis Sci 2024 May 1;65(5):17. doi: 10.1167/iovs.65.5.17. PMID: 38717424Free PMC Article
Kar D, Corradetti G, Swain TA, Clark ME, McGwin G Jr, Owsley C, Sadda SR, Curcio CA
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):41. doi: 10.1167/iovs.64.12.41. PMID: 37768273Free PMC Article
Regillo C, Berger B, Brooks L, Clark WL, Mittra R, Wykoff CC, Callaway NF, DeGraaf S, Ding HT, Fung AE, Gune S, Le Pogam S, Smith R, Willis JR, Barteselli G
Ophthalmology 2023 Jul;130(7):735-747. Epub 2023 Mar 2 doi: 10.1016/j.ophtha.2023.02.024. PMID: 36870451
Owsley C, Swain TA, McGwin G Jr, Clark ME, Kar D, Crosson JN, Curcio CA
Transl Vis Sci Technol 2022 Jul 8;11(7):17. doi: 10.1167/tvst.11.7.17. PMID: 35861686Free PMC Article
Wakuta M, Nomi N, Ogata T, Ota M, Yamashiro C, Hatano M, Yanai R, Tokuda K, Kimura K
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1663-1670. Epub 2020 May 21 doi: 10.1007/s00417-020-04745-1. PMID: 32436085

Therapy

Regillo C, Berger B, Brooks L, Clark WL, Mittra R, Wykoff CC, Callaway NF, DeGraaf S, Ding HT, Fung AE, Gune S, Le Pogam S, Smith R, Willis JR, Barteselli G
Ophthalmology 2023 Jul;130(7):735-747. Epub 2023 Mar 2 doi: 10.1016/j.ophtha.2023.02.024. PMID: 36870451
Weber M, Dominguez M, Coscas F, Faure C, Baillif S, Kodjikian L, Cohen SY
BMC Ophthalmol 2020 May 25;20(1):206. doi: 10.1186/s12886-020-01468-z. PMID: 32450838Free PMC Article
Wakuta M, Nomi N, Ogata T, Ota M, Yamashiro C, Hatano M, Yanai R, Tokuda K, Kimura K
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1663-1670. Epub 2020 May 21 doi: 10.1007/s00417-020-04745-1. PMID: 32436085
Jaki Mekjavić P, Gregorčič B, Oberč C, Podgoršek S
BMC Ophthalmol 2018 Dec 20;18(1):333. doi: 10.1186/s12886-018-1005-x. PMID: 30572850Free PMC Article
Jan S, Nazim M, Karim S, Hussain Z
J Ayub Med Coll Abbottabad 2016 Apr-Jun;28(2):364-368. PMID: 28718542

Prognosis

Weber M, Dominguez M, Coscas F, Faure C, Baillif S, Kodjikian L, Cohen SY
BMC Ophthalmol 2020 May 25;20(1):206. doi: 10.1186/s12886-020-01468-z. PMID: 32450838Free PMC Article
Wakuta M, Nomi N, Ogata T, Ota M, Yamashiro C, Hatano M, Yanai R, Tokuda K, Kimura K
Graefes Arch Clin Exp Ophthalmol 2020 Aug;258(8):1663-1670. Epub 2020 May 21 doi: 10.1007/s00417-020-04745-1. PMID: 32436085
Van Tassel SH, Asrani SG
Ophthalmol Glaucoma 2019 Jan-Feb;2(1):22-27. Epub 2018 Nov 15 doi: 10.1016/j.ogla.2018.11.003. PMID: 32672553
Jaki Mekjavić P, Gregorčič B, Oberč C, Podgoršek S
BMC Ophthalmol 2018 Dec 20;18(1):333. doi: 10.1186/s12886-018-1005-x. PMID: 30572850Free PMC Article
Ruiz-Moreno JM, Montero JA, Zarbin MA
Retina 2007 Apr-May;27(4):458-61. doi: 10.1097/IAE.0b013e318030c77c. PMID: 17420698

Clinical prediction guides

Regillo C, Berger B, Brooks L, Clark WL, Mittra R, Wykoff CC, Callaway NF, DeGraaf S, Ding HT, Fung AE, Gune S, Le Pogam S, Smith R, Willis JR, Barteselli G
Ophthalmology 2023 Jul;130(7):735-747. Epub 2023 Mar 2 doi: 10.1016/j.ophtha.2023.02.024. PMID: 36870451
Owsley C, Swain TA, McGwin G Jr, Clark ME, Kar D, Crosson JN, Curcio CA
Transl Vis Sci Technol 2022 Jul 8;11(7):17. doi: 10.1167/tvst.11.7.17. PMID: 35861686Free PMC Article
Weber M, Dominguez M, Coscas F, Faure C, Baillif S, Kodjikian L, Cohen SY
BMC Ophthalmol 2020 May 25;20(1):206. doi: 10.1186/s12886-020-01468-z. PMID: 32450838Free PMC Article
Jaki Mekjavić P, Gregorčič B, Oberč C, Podgoršek S
BMC Ophthalmol 2018 Dec 20;18(1):333. doi: 10.1186/s12886-018-1005-x. PMID: 30572850Free PMC Article
Xu GZ, Li WW, Tso MO
Trans Am Ophthalmol Soc 1996;94:411-30; discussion 430-1. PMID: 8981707Free PMC Article

Recent systematic reviews

Nangia V, Jonas JB, George R, Lingam V, Ellwein L, Cicinelli MV, Das A, Flaxman SR, Keeffe JE, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Resnikoff S, Silvester AJ, Tahhan N, Taylor HR, Wong TY, Bourne RRA; Vision Loss Expert Group of the Global Burden of Disease Study
Br J Ophthalmol 2019 Jul;103(7):871-877. Epub 2018 Nov 8 doi: 10.1136/bjophthalmol-2018-312292. PMID: 30409914

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...