Document Detail

Mitochondrial DNA abnormalities in ophthalmological disease.
MedLine Citation:
PMID:  23960954     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Grainne S Gorman; Robert W Taylor
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Publication Detail:
Type:  Journal Article     Date:  2011-02-18
Journal Detail:
Title:  Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society     Volume:  25     ISSN:  1319-4534     ISO Abbreviation:  Saudi J Ophthalmol     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2013-08-20     Completed Date:  2013-08-20     Revised Date:  2013-08-27    
Medline Journal Info:
Nlm Unique ID:  9425601     Medline TA:  Saudi J Ophthalmol     Country:  Saudi Arabia    
Other Details:
Languages:  eng     Pagination:  395-404     Citation Subset:  -    
Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, United Kingdom.
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