{"id":3645,"date":"2026-08-11T12:42:35","date_gmt":"2026-08-11T10:42:35","guid":{"rendered":"https:\/\/www.first-sight.ch\/?post_type=glossary&#038;p=3645"},"modified":"2026-08-11T12:43:48","modified_gmt":"2026-08-11T10:43:48","slug":"leber-congenital-amaurosis-lca","status":"publish","type":"glossary","link":"https:\/\/www.first-sight.ch\/en\/glossar\/leber-congenital-amaurosis-lca\/","title":{"rendered":"Leber Congenital Amaurosis (LCA)"},"content":{"rendered":"<p>Leber congenital amaurosis (LCA) is a rare, inherited retinal disease that leads to severe visual impairment at birth or in the first months of life. It is one of the most common causes of congenital blindness in childhood and affects an estimated 1 in 30,000 to 80,000 newborns.<\/p>\n<h2>Causes and inheritance<\/h2>\n<p>LCA is caused by changes in one of over 25 known genes that are crucial for the function of the retina. The disease is inherited in an autosomal recessive manner: this means that both parents must be carriers of the gene change without being affected themselves. For siblings of an affected child, there is a recurrence risk of 25%.<\/p>\n<h2>Symptoms and signs<\/h2>\n<p>Parents often notice as early as the first weeks of life that their child barely reacts to visual stimuli. Typical signs are:<\/p>\n<ul>\n<li><strong>Nystagmus:<\/strong> involuntary, rhythmic eye movements<\/li>\n<li><strong>Light sensitivity (photophobia):<\/strong> some children are sensitive to bright light, while others stare conspicuously into the light<\/li>\n<li><strong>Weak pupil reaction:<\/strong> the pupils react only slowly or incompletely to light<\/li>\n<li><strong>Oculo-digital phenomenon:<\/strong> affected children frequently press or rub their eyes, which temporarily produces flashes of light<\/li>\n<\/ul>\n<p>Vision can range from limited light perception to complete blindness. Most affected children are otherwise healthy, but in some cases additional neurological or systemic abnormalities can occur.<\/p>\n<h2>Diagnosis<\/h2>\n<p>The diagnosis is made by a comprehensive eye examination. Since the fundus may initially appear unremarkable in infants, an electroretinogram (ERG) is particularly informative: this measures the electrical activity of the retina and shows greatly reduced or absent signals in LCA. A genetic test confirms the diagnosis and identifies the underlying gene mutation, an important step for counseling the family and planning a possible therapy.<\/p>\n<h2>Treatment and prospects<\/h2>\n<p>For most forms of LCA, there is currently no causal treatment. One significant exception is the mutation in the RPE65 gene: since 2017, an approved gene therapy (voretigene neparvovec) has been available for this, which specifically replaces the defective gene and can significantly improve vision in some of those affected.<\/p>\n<p>Regardless of the genetic cause, care includes:<\/p>\n<ul>\n<li><strong>Aids for the visually impaired:<\/strong> magnifiers, electronic magnification aids, tactile learning materials, and talking devices<\/li>\n<li><strong>Early intervention:<\/strong> special programs support motor, language, and cognitive development<\/li>\n<li><strong>Genetic counseling:<\/strong> families receive information about inheritance, recurrence risk, and ongoing research projects<\/li>\n<li><strong>Networking:<\/strong> exchange with other affected families and self-help organizations can be valuable support<\/li>\n<\/ul>\n<h2>Regular check-ups<\/h2>\n<p>Even though vision usually remains stable, <a href=\"https:\/\/www.first-sight.ch\/en\/angebot\/visit-to-the-pediatric-ophthalmologist\/\">regular eye check-ups<\/a> are important in order to detect accompanying conditions such as <a href=\"https:\/\/www.first-sight.ch\/en\/cataract-symptoms\/\">cataract<\/a> or keratoconus early. In addition, gene therapy approaches are developing rapidly, so that new treatment options can be discussed at future check-ups.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leber congenital amaurosis (LCA) is a rare, inherited retinal disease that leads to severe visual impairment at birth or in the first months of life. It is one of the most common causes of congenital blindness in childhood and affects an estimated 1 in 30,000 to 80,000 newborns. Causes and inheritance LCA is caused by [&hellip;]<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"_wpce_doc":"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