Leber congenital amaurosis 3
Findings
No curated finding names Leber congenital amaurosis 3 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 SPATA7 gene.
Definition from the Mondo Disease Ontology (MONDO:0011415), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
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.
- NystagmusHPOHP:0000639
- 10 of 10 reported patients
- Visual lossHPOHP:0000572
- 10 of 10 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 8 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
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.
- SPATA7HGNC:20423
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: Leber congenital amaurosis 3
- Also called
- LCA3Leber congenital amaurosis caused by mutation in SPATA7Leber congenital amaurosis type 3retinitis pigmentosa, juvenile, autosomal recessiveSPATA7 Leber congenital amaurosis