Leber congenital amaurosis 13
Findings
No curated finding names Leber congenital amaurosis 13 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 RDH12 gene.
Definition from the Mondo Disease Ontology (MONDO:0012990), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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
- Optic disc pallorHPOHP:0000543
- Reduced visual acuityHPOHP:0007663
- Retinal dystrophyHPOHP:0000556
- Spicular pigmentation of the retinaHPOHP:0007737
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.
- RDH12HGNC:19977
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · Natera · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
4 names
Resolves to: Leber congenital amaurosis 13
- Also called
- LCA13Leber congenital amaurosis caused by mutation in RDH12Leber congenital amaurosis type 13RDH12 Leber congenital amaurosis