Leber-like hereditary optic neuropathy, autosomal recessive 1
MONDO:0958183Mondo
Findings
No curated finding names Leber-like hereditary optic neuropathy, autosomal recessive 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · 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.
- Central scotomaHPOHP:0000603
- 24 of 29 reported patients
- Central retinal vessel vascular tortuosityHPOHP:0007768
- Reduced visual acuityHPOHP:0007663
- Retinal nerve fiber edemaHPOHP:0020120
- Retinal telangiectasiaHPOHP:0007763
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.
- DNAJC30HGNC:16410
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025