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Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Leber plus disease.
8 publications have been identified in PubMed for Leber plus disease. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).
Gök A (2026). [PMID: 42172467](https://pubmed.ncbi.nlm.nih.gov/42172467/). *Turk J Pediatr*. [Case Report / Case Series]
El-Ahmar M (2026). [PMID: 41160119](https://pubmed.ncbi.nlm.nih.gov/41160119/). *Chirurgie (Heidelb)*. [Review / Meta-Analysis]
Kim S (2025). [PMID: 41276521](https://pubmed.ncbi.nlm.nih.gov/41276521/). *Nat Commun*. [Basic Science / Preclinical]
McAnnis KE (2025). [PMID: 38587899](https://pubmed.ncbi.nlm.nih.gov/38587899/). *J Neuroophthalmol*. [Case Report / Case Series]
Şenol HB (2025). [PMID: 39404442](https://pubmed.ncbi.nlm.nih.gov/39404442/). *Am J Med Genet A*. [Case Report / Case Series]
Abiib S (2025). [PMID: 41465088](https://pubmed.ncbi.nlm.nih.gov/41465088/). *Genes (Basel)*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Leber plus disease
Takano F (2024). [PMID: 39980532](https://pubmed.ncbi.nlm.nih.gov/39980532/). *Case Rep Ophthalmol*. [Case Report / Case Series]