title: Ophthalmologic presentation of oxidative phosphorylation diseases of childhood.
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 strabismus was noted in 4 patients with Leigh's or Leigh-like disease; in 9 of these 10 patients, Leigh's disease was the result of complex I deficiency. Altogether, ophthalmologic manifestations were noted at presentation in 12/35 patients with complex I deficiency. External ophthalmoplegia in conjunction with ptosis was the presenting symptom in 3/20 patients, all with Kearns-Sayers syndrome. Patients suspected of having oxidative phosphorylation disorders should be referred for ophthalmologic examination. Prospective studies are needed for a comprehensive elucidation of the ophthalmologic findings in these disorders.
authors.affiliation: Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Loreto V T
authors.initials: LV
authors.lastname: Rose
authors.forename: Nectarios T
authors.initials: NT
authors.lastname: Rose
authors.forename: James E
authors.initials: JE
authors.lastname: Elder
authors.forename: David R
authors.initials: DR
authors.lastname: Thorburn
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
mesh_terms: D002648:Child; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis* / Q000209:etiology; D005133:Eye Movements; D006801:Humans; D007231:Infant, Newborn; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis; D007888:Leigh Disease / Q000175:diagnosis; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology; D011153:Population; D012189:Retrospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013285:Strabismus / Q000209:etiology; D014739:Victoria / Q000453:epidemiology
chemical_list: D004247:DNA