Children with oxidative phorphorylation disorder commonly present with nystagmus

This retrospective review of 103 children with oxidative phosphorylation disorders diagnosed and treated at one medical center between 1983 and 2006 found that nystagmus were the most common ophthalmic presenting disease symptoms. They affected 13 of 20 patients and were the sole ophthalmic manifestation at presentation in 10 of them.

Divergent strabismus was a presenting symptom in five of 20 patients and the sole presenting manifestation in three. External ophthalmoplegia in conjunction with ptosis was the presenting symptom in three of 20 patients, all of whom had Kearns-Sayre syndrome. Abnormal eye movements were noted in six patients and strabismus in four with Leigh or Leigh-like disease; in nine of these 10 patients, Leigh disease was the result of complex I deficiency. Ophthalmic manifestations were noted at presentation in 12 of 35 patients with complex I deficiency.

The study's authors recommended that patients suspected of having oxidative phosphorylation disorders be referred for ophthalmic examinations. Prospective studies are needed in order to comprehensively elucidate the ophthalmic findings of oxidative phosphorylation disorders in children, the authors concluded.