title: Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.
abstract: OBJECTIVE
  To describe ophthalmological characteristics in children with Leigh syndrome (LS), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, and relate the results to causative genetic mutations.
  
  
  METHODS
  Forty-four children with LS (19 females), with a median age of 2.4 years (range: 0.6-14.2 years) at diagnosis, were studied at the Queen Silvia Children's Hospital, Gothenburg, Sweden. Twenty-eight children had known genetic defects. The children underwent an ophthalmological examination, including visual acuity (VA), eye motility, refraction, slit lamp examination, ophthalmoscopy and a full-field electroretinogram (ff-ERG). Seventeen children were available for follow-up over a mean time of 5.4 years (range: 0.3-14.8 years). The results of these children were compared with an age- and sex-matched reference group of healthy children (n = 119).
  
  
  RESULTS
  Altogether 36/44 of the children (82%) had ophthalmological abnormalities. The most common findings were refractive errors (n = 16/25), low VA (n = 9/36), strabismus (n = 8/42), reduced eye motility (n = 8/40), optic atrophy (n = 7/41), retinal pigmentation (n = 6/40) and nystagmus (n = 6/42). Several ophthalmological manifestations appeared over time. In 5/22 children, ff-ERG showed retinal dystrophy. No significant correlation between phenotype and genotype was found. The children with LS had significantly lower VA (p < 0.0001, Mantel-Haenszel chi-square exact test), more astigmatism (p = 0.012, Fisher's exact test) and higher incidence of strabismus (p = 0.0002) compared to controls at follow-up.
  
  
  CONCLUSIONS
  In this unique cohort of children with LS, the vast majority showed ophthalmological findings at diagnosis, which increased over time. Therefore, we recommend that all children diagnosed with LS should be followed up with regular ophthalmological examinations.
authors.affiliation: Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Rebecka
authors.initials: R
authors.lastname: Åkebrand
authors.affiliation: Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Susann
authors.initials: S
authors.lastname: Andersson
authors.affiliation: Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Antovan K
authors.initials: AK
authors.lastname: Seyedi Honarvar
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Sofou
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Niklas
authors.initials: N
authors.lastname: Darin
authors.affiliation: Department of Pediatrics, The Queen Silvia Children's Hospital, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Mar
authors.initials: M
authors.lastname: Tulinius
authors.affiliation: Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors.forename: Marita Andersson
authors.initials: MA
authors.lastname: Grönlund
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis* / Q000503:physiopathology; D005133:Eye Movements / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009887:Ophthalmoscopy; D012029:Refraction, Ocular / Q000502:physiology; D014787:Vision Tests; D014792:Visual Acuity / Q000502:physiology
keywords: electrophysiology; encephalomyopathy; leigh syndrome; mitochondrial disorder