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Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

D Orsucci^1,2, C Angelini³, E Bertini⁴

¹Neurological Clinic, University of Pisa, Via Roma 67, 56100, Pisa, Italy.

Journal of Neurology

|July 12, 2017

Summary

Ocular myopathy, a common mitochondrial disease, was linked to specific genetic causes like mtDNA deletions and POLG mutations. This study refines definitions for progressive external ophthalmoplegia (PEO) subtypes, aiding future research and clinical trials.

Keywords:

CPEO Mitochondrial disorders Mitochondrial myopathy PEO mtDNA

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Area of Science:

Mitochondrial Medicine
Genetics
Neurology

Background:

Ocular myopathy, often presenting as progressive external ophthalmoplegia (PEO), is a frequent mitochondrial disorder.
Accurate phenotyping is crucial for understanding disease mechanisms and developing targeted therapies.

Purpose of the Study:

To refine clinical phenotype definitions for ocular myopathy within the mitochondrial disease spectrum.
To identify genetic associations and clinical features of different PEO subtypes.

Main Methods:

Retrospective analysis of a large cohort from the Italian Collaborative Network of Mitochondrial Diseases.
Categorization of patients into PEO-encephalomyopathy, pure PEO, and PEO-plus based on clinical involvement.
Correlation of phenotypes with genetic diagnoses (mtDNA deletions, POLG, Twinkle mutations, m.3243A>G).

Main Results:

Ocular myopathy was present in 55.3% of genetically diagnosed mitochondrial patients.
PEO-encephalomyopathy was associated with the m.3243A>G mutation; other PEO cases linked to mtDNA single deletions and Twinkle mutations.
Increased lactate correlated with central neurological involvement; pure PEO had a lower male proportion than PEO-plus.

Conclusions:

Refined phenotype definitions for PEO subtypes can improve patient categorization for research and clinical trials.
Genetic factors like mtDNA deletions, POLG, and Twinkle mutations are key in ocular myopathy.
Further investigation into gender's role in mitochondrial diseases is warranted.