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Clinical science
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
  1. M A Grönlund1,
  2. A K Seyedi Honarvar1,
  3. S Andersson1,
  4. A R Moslemi2,
  5. A Oldfors2,
  6. E Holme3,
  7. M Tulinius4,
  8. N Darin4
  1. 1
    Institute of Neuroscience and Physiology/Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
  2. 2
    Department of Pathology, The Sahlgrenska University Hospital, Gothenburg, Sweden
  3. 3
    Department of Clinical Chemistry, The Sahlgrenska University Hospital, Gothenburg, Sweden
  4. 4
    Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
  1. Correspondence to Dr M A Grönlund, Department of Paediatric Ophthalmology, The Queen Silvia Children’s Hospital, Sahlgrenska University Hospital/Östra, SE 416 85 Gothenburg, Sweden; marita.gronlund{at}


Aim: 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).

Conclusion: 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.

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  • Funding This study was supported by the Göteborg Medical Society, the W & M Lundgrens Vetenskapsfond II, the Petter Silfverskölds Minnesfond, and a government grant through the Västra Götaland ALF-agreement.

  • Competing interests None declared.

  • Ethics approval The study was approved by the Ethics Committee at the Medical Faculty, the Sahlgrenska Academy at the University of Gothenburg, Sweden.

  • The results have been presented in different parts at the XIth Nordic Pediatric Ophthalmology Congress held in Tampere, Finland, in September 2005; at the European Paediatric Ophthalmology Society (EPOS) meeting held in Viamora, Portugal, October 2006; at the American Association of Pediatric Ophthalmology and Strabismus (AAPOS) meeting held in Seattle, USA, in April 2007; at the Association for Research in Vision and Ophthalmology (ARVO) annual meeting held in Fort Lauderdale, USA, in May 2007; at the European Paediatric Ophthalmological Society (EPOS) meeting held in Portoroz, Slovenia, in October 2007; and at the European Meeting on Mitochondrial Pathology, held in Stockholm, Sweden, in June 2008.

  • Provenance and Peer review Not commissioned; externally peer reviewed.

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