ArticleSaudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society2011
Mitochondrial DNA abnormalities in ophthalmological disease.
Article in Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 13 citations in OpenAlex.
- Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.Investigative ophthalmology & visual science · 2025Article
- Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.Bioengineering (Basel, Switzerland) · 2024Review
- The roles of NADPH and isocitrate dehydrogenase in cochlear mitochondrial antioxidant defense and aging.Hearing research · 2023Review
- Thiamine deficiency induces oxidative stress in brain mitochondria of Mus musculus.Journal of physiology and biochemistry · 2013Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
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Abstract
Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to genetic defects of oxidative phosphorylation (OXPHOS). Ocular involvement is a prominent clinical feature of mitochondrial disease. This can manifest as optic nerve dysfunction specifically involving retinal ganglion cells as typified by Leber hereditary optic neuropathy (LHON), or progressive external ophthalmoplegia (PEO) and ptosis involving the extraocular muscles which is commonly associated with either primary mitochondrial DNA (mtDNA) mutations or acquired mtDNA defects secondary to a nuclear genetic disorder of mtDNA maintenance. In this short review, we will outline the unique characteristics of mitochondrial genetic disease and its investigation with reference to the clinical features and molecular genetic abnormalities underlying mitochondrial ophthalmological disease.
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