Macular Degeneration, Age-Related, 1 (ARMD1)

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Disease Ontology 11 DOID:0110014 DOID:10871 DOID:4448 OMIM® 57 603075 OMIM Phenotypic Series 57 PS603075 ICD9CM 34 362.50 MeSH 43 D008268 NCIt 49 C123330 C84391

SNOMED-CT 68 18222007 302891003 MedGen 40 C1864205 SNOMED-CT via HPO 69 247154004 422338006 EFO 16 EFO_0001365 EFO_0009606 ICD11 33 1514301548 1514301548/other 1514301548/unspecified UMLS 71 C0024437 C0242383 C1864205 C3495438 more

MedlinePlus Genetics: ⁴² 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.

MalaCards based summary: Macular Degeneration, Age-Related, 1, also known as macular degeneration, is related to macular degeneration, age-related, 4 and retinoschisis 1, x-linked, juvenile, and has symptoms including vision loss, tremor and angina pectoris. An important gene associated with Macular Degeneration, Age-Related, 1 is HMCN1 (Hemicentin 1), and among its related pathways/superpathways is Complement cascade. The drugs Nepafenac and Ketorolac have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are macular hemorrhage and macular degeneration

MedlinePlus: ⁴¹ Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute

PubMed Health : ⁶³ Age-related macular degeneration: It’s normal for our vision to gradually get worse with age. Some people also have medical conditions that further affect their vision or may even lead to blindness. One possible cause of worsening vision is age-related macular degeneration (AMD). AMD is a chronic condition that usually affects both eyes and is brought about by a metabolic disorder. It develops in the macula, the part of the eye that is especially important for seeing sharp images. But vision loss usually only occurs in more advanced stages of AMD. There are two types of AMD: “dry” and “wet.” Wet AMD causes vision loss more quickly. Neither can be cured. But treatment for wet AMD can help to keep and sometimes even improve vision, or at least slow down the progression of the disease.

OMIM®: ⁵⁷ Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). (603075) (Updated 08-Dec-2022)

Disease Ontology ¹¹ Age related macular degeneration 1: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.

Age related macular degeneration: A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.

Macular degeneration: A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has symptom vision loss.

UniProtKB/Swiss-Prot: ⁷³ A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

Wikipedia: ⁷⁵ Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical... more...

Clinical features from OMIM®:

603075 (Updated 08-Dec-2022)

There is currently no effective treatment for dry macular degeneration . Wet AMD is typically treated with medicine that is injected into the eye to prevent blood vessel growth. This medicine is known as anti-vascular endothelial growth factor (anti-VEGF). Although this treatment can’t cure AMD, it can stop or at least slow down the progression. Sometimes vision even improves again during treatment. Photodynamic therapy is less effective, and therefore no longer that common. Laser therapy is also only rarely used nowadays. This treatment involves heating and destroying abnormal blood vessels with laser beams. Photodynamic therapy applies a combination of medication and laser beams. Both of these therapies are only very rarely suitable for treating wet AMD. They also have more side effects than anti-VEGF therapy. In some exceptional cases – and if no other treatment has helped – abnormal blood vessels may be removed surgically. Dietary supplements containing a combination of certain ingredients (vitamin C, vitamin E , zinc , copper, and lutein with zeaxanthin or beta-carotene ) may be able to slow the progression of the disease in people who are at greater risk of developing late-stage AMD.

Search NIH Clinical Center for Macular Degeneration, Age-Related, 1

Interferon Alfa-2a Interferon Alfa-2b INTERFERON ALFA-3N,HUMAN LEUKOCYTE DERIVED interferon alfacon-1 Interferon gamma-1b

Interferons peginterferon alfa-2a peginterferon alfa-2b Recombinant interferon beta-1a Recombinant interferon beta-1b

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 1.