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A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It is characterized by sudden, painless central vision loss, optic nerve microangiopathy, and eventual atrophy in the absence of mtDNA mutations.
No clinical trials have been registered for Leber hereditary optic neuropathy, autosomal recessive.
11 publications have been identified in PubMed for Leber hereditary optic neuropathy, autosomal recessive. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 45% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Research summaries |
2 |
18% |
Laboratory research | 2 | 18% |
Disease patterns and progression | 1 | 9% |
New treatment approaches | 1 | 9% |
Arany ES (2026). [PMID: 40346165](https://pubmed.ncbi.nlm.nih.gov/40346165/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]
Sereikaite L (2025). [PMID: 41009939](https://pubmed.ncbi.nlm.nih.gov/41009939/). *Genes*. [Case Report / Case Series]
Fiorini C (2025). [PMID: 41234160](https://pubmed.ncbi.nlm.nih.gov/41234160/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Levergood NR (2025). [PMID: 41411089](https://pubmed.ncbi.nlm.nih.gov/41411089/). *Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society*. [Case Report / Case Series]
Ali L (2025). [PMID: 40787643](https://pubmed.ncbi.nlm.nih.gov/40787643/). *Journal of biological methods*. [Review / Meta-Analysis]
Rajagopalan A (2025). [PMID: 38564278](https://pubmed.ncbi.nlm.nih.gov/38564278/). *Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society*. [Basic Science / Preclinical]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *Journal of medical case reports*. [Case Report / Case Series]
Klopstock T (2025). [PMID: 39963374](https://pubmed.ncbi.nlm.nih.gov/39963374/). *Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V*. [Gene Therapy / Novel Therapeutics]
Hotta Y (2024). [PMID: 39271608](https://pubmed.ncbi.nlm.nih.gov/39271608/). *Japanese journal of ophthalmology*. [Review / Meta-Analysis]
Roomets E (2024). [PMID: 38715355](https://pubmed.ncbi.nlm.nih.gov/38715355/). *European journal of ophthalmology*. [Case Report / Case Series]
AI-curated news mentioning Leber hereditary optic neuropathy, autosomal recessive
Updated Apr 30, 2026
A case series published on PubMed highlights the genetic features and clinical variability of Leber hereditary optic neuropathy in Arab adolescents and adults. This study contributes to understanding the disease's heterogeneity, which may inform future research and treatment approaches.