In this review, we comprehensively describe ophthalmic diseases with mitochondrial DNA mutation such as Leber's hereditary optic neuropathy (LHON), progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lact...

Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onse...

Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease, is one of the mitochondrial disorders, and is a multisystem disease clinically defined by progressive ophthalmoplegia, peripheral neuropathy, leukoencephalopathy, mitochondrial abnormalities and severe gastrointestinal involvement. Mitochondrial disorders have clinical manifestations reflecting th...

Erythrocyte-encapsulated thymidine phosphorylase (EE-TP) is currently under development as an enzyme replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive disorder caused by a deficiency of thymidine phosphorylase. The rationale for the development of EE-TP is based on the pathologically elevated metabolites (thymidine and deoxyuridine) be...

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In most cases, these disorders are caused by mutations in genes involved in deoxyrib...