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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 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 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

Matsumoto H, Hoshino J, Nakamura K, Akiyama H
Jpn J Ophthalmol 2024 Mar;68(2):83-90. Epub 2024 Jan 20 doi: 10.1007/s10384-023-01040-4. PMID: 38244172
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

Recent clinical studies

Etiology

Valero-Ochando J, Cantó A, López-Pedrajas R, Almansa I, Miranda M
Biomolecules 2024 Oct 7;14(10) doi: 10.3390/biom14101262. PMID: 39456195Free PMC Article

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