title: Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.
abstract: OBJECTIVE
  To describe ophthalmological phenotypes in patients with mitochondrial disease and known genotypes.
  
  
  METHODS
  A retrospective study was performed on 59 patients (29 male, 30 female) with a mean age of 11.8 years who had mitochondrial disease with known DNA mutations. Fifty-seven of the 59 subjects underwent a detailed ophthalmological examination including visual acuity (VA), eye motility, refraction, slit-lamp examination, ophthalmoscopy and, in almost one-half of the cases, a full-field electroretinogram (ERG).
  
  
  RESULTS
  Forty-six (81%) of the patients had one or more ophthalmological findings such as ptosis (n = 16), reduced eye motility (n = 22) including severe external ophthalmoplegia (n = 9), strabismus (n = 4), nystagmus (n = 9), low VA (n = 21), refractive errors (n = 26), photophobia (n = 4), and partial or total optic atrophy (n = 25). Pigmentation in the macula and/or periphery was noted in 16 patients. In 10/27 investigated individuals with full field ERG, retinal dystrophy was recorded in six different genotypes representing Kearns-Sayre syndrome (n = 5), Leigh syndrome (n = 1), Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (n = 1), Myoclonus epilepsy with red ragged fibres (MERRF) (n = 1), Leber hereditary optic neuropathy (n = 1) and mitochondrial myopathy (n = 1).
  
  
  CONCLUSIONS
  The results show that a majority of patients with mitochondrial disorders have ophthalmological abnormalities. We recommend that an ophthalmological examination, including ERG, be performed on all children and adolescents who are suspected of having a mitochondrial disease.
authors.affiliation: Department of Paediatric Ophthalmology, The Queen Silvia Children's Hospital, Sahlgrenska University Hospital/Ostra, SE 416 85 Gothenburg, Sweden. marita.gronlund@neuro.gu.se
authors.forename: M A
authors.initials: MA
authors.lastname: Grönlund
authors.forename: A K Seyedi
authors.initials: AK
authors.lastname: Honarvar
authors.forename: S
authors.initials: S
authors.lastname: Andersson
authors.forename: A R
authors.initials: AR
authors.lastname: Moslemi
authors.forename: A
authors.initials: A
authors.lastname: Oldfors
authors.forename: E
authors.initials: E
authors.lastname: Holme
authors.forename: M
authors.initials: M
authors.lastname: Tulinius
authors.forename: N
authors.initials: N
authors.lastname: Darin
mesh_terms: D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D004596:Electroretinography; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D005838:Genotype; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D015835:Ocular Motility Disorders / Q000209:etiology; D009896:Optic Atrophy / Q000209:etiology; D010641:Phenotype; D012030:Refractive Errors / Q000209:etiology; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial