Visual function, ocular motility and ocular characteristics in patients with mitochondrial complex I deficiency
Open Access
- 23 March 2010
- journal article
- research article
- Published by Wiley in Acta Ophthalmologica
- Vol. 90 (1), 32-43
- https://doi.org/10.1111/j.1755-3768.2010.01865.x
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 ≤0.5 in one or both eyes. Cataract surgery was performed in one patient and another patient showed retinal pigmentations and ptosis. Eleven patients demonstrated ocular motility problems, mainly saccade deficiencies. Five patients had optic atrophy (OA), which was bilateral in four patients. In four siblings, the OA showed a similarity to Leber’s Hereditary Optic Neuropathy. These patients also had the 11778 G→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.This publication has 38 references indexed in Scilit:
- Measurement of optic disc parameters on digital fundus photographs: algorithm development and evaluationActa Ophthalmologica, 2008
- Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?Bioscience Reports, 2007
- Leber’s Hereditary Optic Neuropathy with Childhood OnsetInvestigative Ophthalmology & Visual Science, 2006
- The new Richmond HRR pseudoisochromatic test for colour vision is better than the Ishihara testClinical and Experimental Optometry, 2006
- Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathyBritish Journal of Ophthalmology, 2005
- Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathyOphthalmology, 2005
- Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegenerationBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
- Mitochondrial dysfunction as a cause of optic neuropathiesProgress in Retinal and Eye Research, 2004
- Neuro-ophthalmology of Mitochondrial DiseasesSeminars in Neurology, 2001
- Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiencyEuropean Journal of Pediatrics, 1992