Leber congenital amaurosis 5
Findings
No curated finding names Leber congenital amaurosis 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.
Definition from the Mondo Disease Ontology (MONDO:0011473), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypermetropiaHPOHP:0000540
- NystagmusHPOHP:0000639
- Undetectable electroretinogramHPOHP:0000550
- Visual impairmentHPOHP:0000505
- Congenital onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LCA5HGNC:31923
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 5
- Also called
- LCA5LCA5 Leber congenital amaurosisLeber congenital amaurosis caused by mutation in LCA5Leber congenital amaurosis type 5