Disease association ontology term - MONDO:0018998 - Leber congenital amaurosis
Term summary
- ID
- MONDO:0018998
- Name
- Leber congenital amaurosis
- Ontology or CV name
- Disease association
- Definition
- 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.
