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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in one of over 20 different genes can cause Leber congenital amaurosis. These genes are all necessary for normal vision and play a variety of roles in the development and function of the retina. For example, some of the genes that are associated with this disorder are essential for the normal development of light-sensing cells in the retina called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic, finger-like projections that are found in many types of cells, including the retina&#x27;s photoreceptors. These cilia are required for proper photoreceptor function.</p><p>Pathogenic variants in the genes that are associated with Leber congenital amaurosis disrupt the development or function of the retina, resulting in early vision loss. Pathogenic variants in the CEP290, CRB1, GUCY2D, and RPE65 genes are among the most common causes of Leber congenital amaurosis. The CEP290 gene plays a role in the function of cilia, while the CRB1 gene helps with the development of photoreceptor cells. The GUCY2D gene is important for phototransduction. The RPE65 gene plays an important role in the visual cycle, which is the process that helps recycle light-sensitive molecules that are needed for vision.</p><p>Despite advances in genetic testing, a pathogenic variant may not be found in 20 to 30 percent of all people with Leber congenital amaurosis. In these cases, the cause of the disorder is unknown.</p><p>When Leber congenital amaurosis occurs as part of a genetic syndrome, it is caused by pathogenic variants in the gene that is associated with that syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Leber congenital amaurosis?"},{"bodyHtml":"<p>Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.</p><p>A specific behavior called Franceschetti&#x27;s oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.</p><p>In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.</p><p>At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"leber-congenital-amaurosis","sourceDocuments":[{"name":"Leber congenital amaurosis","reviewed":"2022-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:51.320326+00:00","label":"Causes","pageSha256":"29041811427491ec44149933015d1906dca6105f88492fc60216130d072163bf","sourceUrl":"https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis"}],"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":"Leber congenital amaurosis"},"schemaVersion":1}