Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Progressive visual loss, Damage to the optic nerve (optic atrophy), Centrocecal scotoma, and Red-green dyschromatopsia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Damage to the optic nerve (optic atrophy) |
NDUFS2 encodes NADH:ubiquinone oxidoreductase core subunit S2 (463 aa). Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Highest expression in Muscle Skeletal (154.5 TPM) and Ovary (130.0 TPM).
Leber-like hereditary optic neuropathy, autosomal recessive 2 is associated with mutations in the NDUFS2 gene on chromosome 1.
NDUFS2 is classified as a druggable target (Enzyme category) with score 0.3.
Genetic testing for NDUFS2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
No clinical trials have been registered for Leber-like hereditary optic neuropathy, autosomal recessive 2.
3 publications have been identified in PubMed for Leber-like hereditary optic neuropathy, autosomal recessive 2. Research spans Epidemiology / Natural History (67%) and Gene Therapy / Novel Therapeutics (33%).
Zheng Y (2025). [PMID: 39423307](https://pubmed.ncbi.nlm.nih.gov/39423307/). *Brain*. [Epidemiology / Natural History]
Klopstock T (2025). [PMID: 39963374](https://pubmed.ncbi.nlm.nih.gov/39963374/). *Med Genet*. [Gene Therapy / Novel Therapeutics]
Delibes C (2024). [PMID: 38796496](https://pubmed.ncbi.nlm.nih.gov/38796496/). *J Transl Med*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
Online Mendelian Inheritance in Man
Common questions about Leber-like hereditary optic neuropathy, autosomal recessive 2
1 |
Damage to the optic nerve (optic atrophy) |