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Age related macular degeneration 7(ARMD7)

MedGen UID:
347554
Concept ID:
C1857813
Disease or Syndrome
Synonym: MACULAR DEGENERATION, AGE-RELATED, 7, SUSCEPTIBILITY TO
 
Gene (location): HTRA1 (10q26.13)
 
Monarch Initiative: MONDO:0012419
OMIM®: 610149

Definition

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.

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. [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

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
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Kodjikian L, Bellocq D, Mathis T
Biomed Res Int 2018;2018:8289253. Epub 2018 Aug 28 doi: 10.1155/2018/8289253. PMID: 30246026Free PMC Article

Recent clinical studies

Etiology

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Schultz NM, Bhardwaj S, Barclay C, Gaspar L, Schwartz J
Clin Ther 2021 Oct;43(10):1792-1818. Epub 2021 Sep 20 doi: 10.1016/j.clinthera.2021.08.011. PMID: 34548176
Fleckenstein M, Keenan TDL, Guymer RH, Chakravarthy U, Schmitz-Valckenberg S, Klaver CC, Wong WT, Chew EY
Nat Rev Dis Primers 2021 May 6;7(1):31. doi: 10.1038/s41572-021-00265-2. PMID: 33958600
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article

Diagnosis

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
Fleckenstein M, Keenan TDL, Guymer RH, Chakravarthy U, Schmitz-Valckenberg S, Klaver CC, Wong WT, Chew EY
Nat Rev Dis Primers 2021 May 6;7(1):31. doi: 10.1038/s41572-021-00265-2. PMID: 33958600
Stahl A
Dtsch Arztebl Int 2020 Jul 20;117(29-30):513-520. doi: 10.3238/arztebl.2020.0513. PMID: 33087239Free PMC Article
Sadda SR, Guymer R, Holz FG, Schmitz-Valckenberg S, Curcio CA, Bird AC, Blodi BA, Bottoni F, Chakravarthy U, Chew EY, Csaky K, Danis RP, Fleckenstein M, Freund KB, Grunwald J, Hoyng CB, Jaffe GJ, Liakopoulos S, Monés JM, Pauleikhoff D, Rosenfeld PJ, Sarraf D, Spaide RF, Tadayoni R, Tufail A, Wolf S, Staurenghi G
Ophthalmology 2018 Apr;125(4):537-548. Epub 2017 Nov 2 doi: 10.1016/j.ophtha.2017.09.028. PMID: 29103793

Therapy

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
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
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
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
Nowak JZ
Pharmacol Rep 2006 May-Jun;58(3):353-63. PMID: 16845209

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
Hirata Y, Oishi A, Maekawa Y, Tsuiki E, Machida A, Kurihara J, Kitaoka T
Sci Rep 2022 Aug 30;12(1):14768. doi: 10.1038/s41598-022-19062-2. PMID: 36042371Free 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
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
Nwosu SN
Niger J Clin Pract 2011 Jul-Sep;14(3):327-31. doi: 10.4103/1119-3077.86778. PMID: 22037079

Clinical prediction guides

Fleckenstein M, Schmitz-Valckenberg S, Chakravarthy U
JAMA 2024 Jan 9;331(2):147-157. doi: 10.1001/jama.2023.26074. PMID: 38193957
Trivizki O, Wang L, Shi Y, Rabinovitch D, Iyer P, Gregori G, Feuer W, Rosenfeld PJ
Ophthalmol Retina 2023 Aug;7(8):672-682. Epub 2023 Mar 30 doi: 10.1016/j.oret.2023.03.016. PMID: 37003480Free 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
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
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
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free 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
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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