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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 variants are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a quarter of all people with this form of the condition have variants in the BEST1 or PRPH2 gene. In most cases, the cause of the adult-onset form is unknown.</p><p>The BEST1 gene provides instructions for making a protein called bestrophin. This protein acts as a channel that controls the movement of charged chlorine atoms (chloride ions) into or out of cells in the retina. Variants in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot properly control the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss.</p><p>The PRPH2 gene provides instructions for making a protein called peripherin 2. This protein is essential for the normal function of light-sensing (photoreceptor) cells in the retina. Variants in the PRPH2 gene cause vision loss by disrupting structures in these cells that contain light-sensing pigments. It is unclear why PRPH2 variants affect only central vision in people with adult-onset vitelliform macular dystrophy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Vitelliform macular dystrophy?"},{"bodyHtml":"<p>Vitelliform macular dystrophy causes a fatty yellow pigment (called lipofuscin) to build up in cells underlying the macula. Over time, large amounts of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night.</p><p>Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the age at which symptoms begin and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"vitelliform-macular-dystrophy","sourceDocuments":[{"name":"Vitelliform macular dystrophy","reviewed":"2008-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:42.882003+00:00","label":"Causes","pageSha256":"ec43f22e56194dda9f7051a282be4cb6e02a78b96b46569ca8f2a0c43c0191c5","sourceUrl":"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/vitelliform-macular-dystrophy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Vitelliform macular dystrophy"},"schemaVersion":1}