Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities.

摘要: PURPOSE. To evaluate a group of patients with isolated, early-onset, bilateral optic neuropathy for genetic and biochemical evidence mitochondrial diseases. METHODS. This case-control study involved 21 patients, 159 control subjects (mt)DNA sequencing, 40 relative mtDNA content. Patients were identified who had decreased vision since childhood due to characterized by central visual loss no other major neurologic or ocular abnormality clinical syndrome. Clinical examination, electroretinograms, neuroimaging performed; the entire coding region was sequenced in leukocytes all patients; content assessed; OPA1 OPA3 nuclear genes associated dominant recessive atrophy, respectively, sequenced. Main outcome measures description, nonsynonymous (NS) nucleotide changes, content, changes. RESULTS. Twenty-one unrelated (16 male 5 female; mean age at first examination 13.6 years) moderate, relatively symmetric neuropathies normal examinations than strabismus 11 congenital nystagmus 9. Four nerve hypoplasia. One patient nt 11778 primary Leber hereditary (LHON) mutation, three others changes predicted be pathologic. The small increase (6.7%) indeterminate statistical significance. No polymorphism mutation OPA3. CONCLUSIONS. A minority these young sporadic abnormalities parameters evaluated. may genetic, epigenetic, environmental injury defects not studied.