Open AccessVision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy
Author(s) -
Lin HongZin,
Pang ChengYoong,
Chen SheePing,
Tsai RongKung
Publication year - 2012
Publication title -
the kaohsiung journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.439
H-Index - 36
eISSN - 2410-8650
pISSN - 1607-551X
DOI - 10.1016/j.kjms.2012.04.038
Subject(s) - medicine , leber's hereditary optic neuropathy , optic neuropathy , chinese family , family history , brother , mitochondrial dna , han chinese , pediatrics , ophthalmology , genetics , surgery , optic nerve , gene , genotype , sociology , biology , anthropology , single nucleotide polymorphism
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.