# Leber congenital amaurosis

> retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness

**Wikidata**: [Q1811132](https://www.wikidata.org/wiki/Q1811132)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Leber_congenital_amaurosis)  
**Source**: https://4ort.xyz/entity/leber-congenital-amaurosis


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)