Leber congenital amaurosis 2
Findings
No curated finding names Leber congenital amaurosis 2 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 RPE65 gene.
Definition from the Mondo Disease Ontology (MONDO:0008765), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 13 of 13 reported patients
- NyctalopiaHPOHP:0000662
- 14 of 14 reported patients
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 14 of 14 reported patients
- Undetectable light- and dark-adapted electroretinogramHPOHP:0007688
- 13 of 13 reported patients
- Optic disc pallorHPOHP:0000543
- 9 of 13 reported patients
- Absent foveal reflexHPO
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.
- RPE65HGNC:10294
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 2
- Also called
- LCA2Leber congenital amaurosis caused by mutation in RPE65Leber congenital amaurosis type 2RPE65 Leber congenital amaurosis