title: Novel use of idebenone in Leber's hereditary optic neuropathy in Hong Kong.
abstract: We report a case of a young Chinese male presenting with sequential, painless, bilateral visual loss in Hong Kong. He was diagnosed to have Leber's hereditary optic neuropathy with genetic workup showing G11778A mutation with over 80% heteroplasmy. He was started on idebenone treatment 11 months after onset of the binocular disease. To our best knowledge, this is the first case of Leber's hereditary optic neuropathy treated with idebenone in Hong Kong. The recent evidence of the diagnosis and treatment of this devastating disease is reviewed.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: S W
authors.initials: SW
authors.lastname: Cheng
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: C H
authors.initials: CH
authors.lastname: Ko
authors.affiliation: Department of Ophthalmology, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: S K
authors.initials: SK
authors.lastname: Yau
authors.affiliation: Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
authors.forename: Chloe
authors.initials: C
authors.lastname: Mak
authors.affiliation: Department of Ophthalmology, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: Y F
authors.initials: YF
authors.lastname: Yuen
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Shamshuipo, Hong Kong.
authors.forename: C Y
authors.initials: CY
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000975:Antioxidants / Q000008:administration & dosage / Q000627:therapeutic use*; D003937:Diagnosis, Differential; D006723:Hong Kong; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000188:drug therapy; D014451:Ubiquinone / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D014792:Visual Acuity
chemical_list: D000975:Antioxidants; D014451:Ubiquinone; C036619:idebenone
keywords: Antioxidants; Hong Kong; Optic atrophy, hereditary, Leber/drug therapy