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[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].

Yi Tong, Ying Wang, Feng Jiang, Bin Liu, Shoukang Zhang, Wei Yang

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Abstract

OBJECTIVE: To analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation. METHODS: Eighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA 11778, 3460 and 14484 loci. RESULTS: (1)The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic atrophy identified by funduscopy. (2) The mtDNA had mutation at position 14484, but not at positions 11778 and 3460. CONCLUSION: The pedigree showed a typical maternal inheritance of Leber's hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.

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What this paper is about

OBJECTIVE: To analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation. METHODS: Eighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA 11778, 3460 and 14484 loci. RESULTS: (1)The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic atrophy identified by funduscopy. (2) The mtDNA had mutation at position 14484, but not at positions 11778 and 3460. CONCLUSION: The pedigree showed a typical maternal inheritance of Leber's hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.

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Available abstract

OBJECTIVE: To analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation. METHODS: Eighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA 11778, 3460 and 14484 loci. RESULTS: (1)The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic atrophy identified by funduscopy. (2) The mtDNA had mutation at position 14484, but not at positions 11778 and 3460. CONCLUSION: The pedigree showed a typical maternal inheritance of Leber's hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.

Key concepts: Leber's hereditary optic neuropathy, Mitochondrial DNA, Penetrance, Optic neuropathy, Mutation, Genetics, Point mutation, Medicine

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[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation]. — Research Paper | ScholarLens