Leber congenital amaurosis 1
Findings
No curated finding names Leber congenital amaurosis 1 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 GUCY2D gene.
Definition from the Mondo Disease Ontology (MONDO:0008764), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- KeratoconusHPOHP:0000563
- 3 of 5 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 2 of 6 reported patients
- BlindnessHPOHP:0000618
- 2 of 6 reported patients
- Eye pokingHPOHP:0001483
- 2 of 6 reported patients · Infantile onset
- NyctalopiaHPOHP:0000662
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.
- GUCY2DHGNC:4689
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 1
- Also called
- GUCY2D Leber congenital amaurosisLCA1Leber congenital amaurosis caused by mutation in GUCY2DLeber congenital amaurosis type 1