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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version August 2026
Newly diagnosed with
Leber congenital amaurosis?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
EmesArmy
Fighting childhood blindness
Eyes on the Future
To advance treatment for patients affected by RDH12 Inherited Retina Dystrophies. To promote health, advance education and support the community.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.