Leber congenital amaurosis
Synonyms: Amaurosis congenita of Leber
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold associated with severe visual impairment within the first year of life.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Leber congenital amaurosis?
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Eyes on the Future
To advance treatment for patients affected by RDH12 Inherited Retina Dystrophies. To promote health, advance education and support the community.
Fighting childhood blindness
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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Curing single-gene disorders
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