TY - JOUR T1 - Ophthalmological findings in children and young adults with genetically verified mitochondrial disease JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 121 LP - 127 DO - 10.1136/bjo.2008.154187 VL - 94 IS - 1 AU - M A Grönlund AU - A K Seyedi Honarvar AU - S Andersson AU - A R Moslemi AU - A Oldfors AU - E Holme AU - M Tulinius AU - N Darin Y1 - 2010/01/01 UR - http://bjo.bmj.com/content/94/1/121.abstract N2 - 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. ER -