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Visual function, oc...
Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency
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- Fahnehjelm, Kristina Teär (author)
- Karolinska Institutet
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- Olsson, Monica (author)
- Karolinska Institutet
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- Naess, Karin (author)
- Karolinska Institutet
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- Wiberg, Maria (author)
- Karolinska Institutet
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- Ygge, Jan (author)
- Karolinska Institutet
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- Martin, Lene (author)
- Karolinska Institutet
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- von Döbeln, Ulrika (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2010-03-23
- 2012
- English.
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In: Acta ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 90:1, s. 32-43
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Abstract
Subject headings
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- Abstract. Purpose: The aims of the present study were to investigate visual function, ocular motility and ocular characteristics in children and young adults with complex I deficiency. Material and Methods: In a prospective study with longitudinal follow-up, the visual and ocular outcome in 13 patients with deficiency in complex I [nicotine-amide adenine dinucleotide (NADH) dehydrogenase] in the mitochondrial respiratory chain is presented. The patients were diagnosed during 1995-2007 and assessed during 1997-2009 at a median age of 12.8 years (range 3.1-23.4). Results: Twelve of 13 patients had visual impairment and/or ocular pathology. Four of 10 patients who co-operated in visual assessment had a best corrected decimal visual acuity of A mutation in mitochondrial DNA. Only one patient had normal visual acuity and ocular outcome including refraction and visual fields. Follow-up time was median 3.0 years (range 0-11). Conclusion: Visual impairment, ocular motility problems and OA are common in children and young adults with complex I deficiency and should prompt the paediatric ophthalmologist to consider mitochondrial disorders.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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