Journal article

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood

Loreto VT Rose, Nectarios T Rose, James E Elder, David R Thorburn, Avihu Boneh

PEDIATRIC NEUROLOGY | ELSEVIER SCIENCE INC | Published : 2008

Abstract

To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Australia. Nystagmus or roving eye movements were the most common ophthalmologic manifestations as a presenting symptom of disease (13/20) and were the sole manifestation at presentation in 10/13 patients. Divergent strabismus was a presenting symptom in 5/20 patients and was the sole manifestation at presentation in 3/20 patients. Abnormal eye movements were noted in 6 patients and ..

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