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목적 : To identify the clinical and molecular genetic features in genetically confirmed Leber’s hereditary optic neuropathy (LHON) Korean children with age onset equal to or less than 13 years of age.
방법 : The medical records of sixty-four genetically confirmed LHON patients were reviewed. Total genomic DNA was isolated from the peripheral blood leukocytes of the patients with suspected LHON, and primary or secondary mtDNA mutations were identified by direct sequencing. We analyzed the visual acuity (VA), color vision, fundus photography, retinal nerve fiber layer (RNFL) thickness, and visual field. Patients with disease onset of 13 years or younger were classified as childhood onset group and were compared with non-childhood onset patients.
결과 : 17 patients with optic atrophy with positive mtDNA mutation were considered childhood onset LHON. Along with primary mutation m.11778G>A (58.8%), four secondary mtDNA mutations, m.3496G>T, m.3497C>T, m.11696G>A and m.14502T>C, were identified. Patients from the childhood onset group had better final BCVA compared to the non-childhood onset group and the visual recovery rate was also higher. 8 patients showed asymmetrical ocular involvement of the disease. 2 were true involvement of unilateral optic nerve and the remaining 6 were unilateral subclinical manifestation with bilateral optic atrophy
결론 : Involvement of secondary mitochondrial mutations was confirmed in childhood onset LHON for the first time. The characteristic clinical features of childhood onset LHON including higher proportion of subacute or insidious onset of symptoms, better visual acuity, higher spontaneous recovery rate and asymmetrical ocular involvements were found. Evaluation of pediatric patients with unexplained visual deterioration and optic disc pallor should include both the primary and secondary LHON-associated mtDNA mutations.
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