Yonsei Med J.  2018 Dec;59(10):1190-1196. 10.3349/ymj.2018.59.10.1190.

Ophthalmoplegia in Mitochondrial Disease

• Lee SJ
• Na JH
• Han J
• Lee YM

• KMID: 2426333
• DOI: http://doi.org/10.3349/ymj.2018.59.10.1190

Abstract

PURPOSE
To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.
MATERIALS AND METHODS
Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO).
RESULTS
The prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocular muscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magnetic resonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p < 0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group.
CONCLUSION
Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS.

Keyword

Mitochondrial diseases; Kearns-Sayre syndrome; ophthalmoplegia; chronic progressive external ophthalmoplegia

MeSH Terms

Acidosis, Lactic
Classification
Creatine Kinase
Diagnosis
DNA, Mitochondrial
Electron Transport
Enzyme Assays
Gastrointestinal Motility
Gastrointestinal Tract
Genes, vif
Humans
Kearns-Sayre Syndrome
Magnetic Resonance Imaging
Mitochondrial Diseases*
Muscles
Muscular Diseases
Ophthalmoplegia*
Ophthalmoplegia, Chronic Progressive External
Prevalence
Retinitis Pigmentosa
Retrospective Studies
Creatine Kinase
DNA, Mitochondrial

Figure

• 

  Fig. 1 Flowchart showing the recruitment of patients with mitochondrial disease and ophthalmoplegia. KSS, Kearns-Sayre syndrome; CPEO, chronic progressive external ophthalmoplegia.

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