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The entire mtDNA<\/jats:styled-content> and nuclear genes POLG<\/jats:styled-content>1<\/jats:italic>, OPA<\/jats:styled-content>1<\/jats:italic> and PEO<\/jats:styled-content>1<\/jats:italic> were analysed from the available DNA<\/jats:styled-content> samples (n<\/jats:italic>\u00a0=\u00a038). Furthermore, some nuclear candidate genes were investigated based on family history and phenotype. Rare mtDNA<\/jats:styled-content> mutations were evaluated using in silico<\/jats:italic> predictors and sequence alignment.<\/jats:p><\/jats:sec>Results<\/jats:title>Three patients had previously identified mutations in mtDNA<\/jats:styled-content> that are associated with optic neuropathy (in MT<\/jats:styled-content>\u2010ND<\/jats:styled-content>6<\/jats:italic> and MT<\/jats:styled-content><\/jats:italic>\u2010ND<\/jats:styled-content>1<\/jats:italic>) and nystagmus (in tRNA<\/jats:styled-content> Arg<\/jats:italic>). Nine rare mutations in MT<\/jats:styled-content>\u2010ATP<\/jats:styled-content>6<\/jats:italic> were identified in seven patients, of whom four manifested with retinopathy and three had clusters of MT<\/jats:styled-content>\u2010ATP<\/jats:styled-content>6<\/jats:italic> mutations. Nuclear PEO<\/jats:styled-content>1<\/jats:italic> and OPA<\/jats:styled-content>1<\/jats:italic> were unchanged in all samples, but a patient with nystagmus had a heterozygous POLG<\/jats:styled-content>1<\/jats:italic> mutation. The analysis of nuclear candidate genes revealed mutations in NDUF<\/jats:styled-content>8<\/jats:italic> (patient with nystagmus), TULP<\/jats:styled-content>1<\/jats:italic> (patient with optic neuropathy, nystagmus and retinopathy) and RP<\/jats:styled-content>2<\/jats:italic> (patient with retinopathy) genes.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Children with retinopathy, nystagmus or optic neuropathy, especially together with developmental delay or positive family history, should be considered for mitochondrial disease. MT<\/jats:styled-content>\u2010ATP<\/jats:styled-content>6<\/jats:italic> should be taken into account for children with retinopathy of unknown aetiology.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12897","type":"journal-article","created":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T13:28:49Z","timestamp":1444310929000},"page":"83-91","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic aetiology of ophthalmological manifestations in children \u2013 a focus on mitochondrial disease\u2010related symptoms"],"prefix":"10.1111","volume":"94","author":[{"given":"Paula","family":"Widgren","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit University of Oulu Oulu Finland"},{"name":"Department of Children and Adolescents Division of Pediatric Neurology Oulu University Hospital Oulu Finland"},{"name":"Department of Ophthalmology Oulu University Hospital Oulu Finland"},{"name":"Medical Research 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