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.