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Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report

Matthew D Benson1, Patrick Ferreira2, Ian M MacDonald1

  • 1a Department of Ophthalmology and Visual Sciences , University of Alberta , Edmonton , Alberta , Canada.

Ophthalmic Genetics
|April 8, 2016
PubMed

Insights

Dilated cardiomyopathy with ataxia syndrome (DCMA) can cause severe heart issues and ataxia. This study identifies new ocular motility disorders, including oculomotor apraxia, as potential early signs of DCMA.

Area of Science:

  • Genetics
  • Neurology
  • Cardiology

Background:

  • Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial disorder.
  • It is characterized by early-onset cardiomyopathy and non-progressive ataxia.
  • Cardiac issues in DCMA can be severe, leading to significant morbidity and mortality.

Observation:

  • Optic nerve atrophy is a known ocular finding in DCMA.
  • This report details two related patients with DCMA exhibiting novel ocular motility disorders.
  • These include impaired smooth pursuit and difficulties with saccadic eye movements and visual fixation.

Findings:

  • The study reports the first documented cases of oculomotor apraxia in patients with DCMA syndrome.
  • These findings expand the known ocular phenotype associated with DCMA.

Implications:

  • Early identification of these ocular motility disorders can improve diagnostic accuracy for DCMA.
  • Timely intervention may be facilitated by recognizing these associated findings.
  • This research highlights the importance of comprehensive ophthalmologic evaluation in DCMA patients.

Keywords:
DNAJC19Dilated cardiomyopathy with ataxia syndromemitochondriaoculomotor apraxia

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