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Ophthalmologic presentation of oxidative phosphorylation diseases of childhood

Loreto V T Rose1, Nectarios T Rose, James E Elder

  • 1Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.

Pediatric Neurology
|May 20, 2008
PubMed

Insights

Ophthalmologic issues like nystagmus are common in children with oxidative phosphorylation disorders. Early eye exams are crucial for diagnosing these complex genetic conditions.

Area of Science:

  • Pediatric Neurology
  • Ophthalmology
  • Mitochondrial Diseases

Background:

  • Oxidative phosphorylation disorders (OPDs) are a group of severe genetic conditions affecting cellular energy production.
  • Ophthalmologic manifestations in pediatric OPDs are not fully characterized, impacting early diagnosis and management.
  • Understanding these eye-related symptoms is vital for comprehensive patient care.

Purpose of the Study:

  • To identify and describe the spectrum of ophthalmologic manifestations in children diagnosed with definitive OPDs.
  • To determine the frequency and presenting patterns of these eye conditions in pediatric patients with OPDs.
  • To highlight the importance of ophthalmologic evaluations in the diagnostic workup of suspected OPDs.

Main Methods:

  • Retrospective review of clinical and laboratory records of 103 pediatric patients with OPDs.
  • Data collected from patients diagnosed and treated at a single center in Victoria, Australia (1983-2006).
  • Analysis focused on presenting ophthalmologic symptoms, specific diagnoses (e.g., Leigh's disease, Kearns-Sayers syndrome), and underlying genetic defects (e.g., Complex I deficiency).

Main Results:

  • Nystagmus or roving eye movements were the most frequent presenting ophthalmologic sign (13/20 patients), often being the sole initial symptom (10/13).
  • Divergent strabismus presented in 5/20 patients, with 3/20 having it as the only initial sign.
  • Ophthalmologic findings were noted in 12/35 patients with Complex I deficiency, and external ophthalmoplegia with ptosis occurred in 3/20 patients with Kearns-Sayers syndrome.

Conclusions:

  • Ophthalmologic manifestations, particularly abnormal eye movements and strabismus, are common presenting features in pediatric oxidative phosphorylation disorders.
  • Prompt ophthalmologic examination is recommended for children suspected of having OPDs.
  • Further prospective studies are necessary to fully elucidate the range and significance of ophthalmologic findings in these debilitating disorders.

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