title: Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.
abstract: In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.
authors.affiliation: Department of Ophthalmology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
authors.forename: Hong-Zin
authors.initials: HZ
authors.lastname: Lin
authors.forename: Cheng-Yoong
authors.initials: CY
authors.lastname: Pang
authors.forename: Shee-Ping
authors.initials: SP
authors.lastname: Chen
authors.forename: Rong-Kung
authors.initials: RK
authors.lastname: Tsai
mesh_terms: D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000188:drug therapy* / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010431:Pentoxifylline / Q000627:therapeutic use; D017354:Point Mutation; D013624:Taiwan; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use; D014785:Vision, Ocular / Q000502:physiology*
chemical_list: D004272:DNA, Mitochondrial; D014451:Ubiquinone; C024989:coenzyme Q10; D010431:Pentoxifylline