Open AccessLeber's Hereditary Optic Neuropathy: A Case Report
Author(s) -
Chang ChiWu,
Chang ChiHuang,
Peng MeiLin
Publication year - 2003
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/s1607-551x(09)70500-5
Subject(s) - medicine , leber's hereditary optic neuropathy , optic neuropathy , optic nerve , ophthalmology , visual acuity , fluorescein angiography , central scotoma , blind spot , blurred vision , optic disc , visual field , pupil , glaucoma , artificial intelligence , neuroscience , biology , computer science
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that primarily affects the optic nerve, causing bilateral vision loss in juveniles and young adults. A 12‐year‐old boy had complained of blurred vision in both eyes for more than 1 year. His best‐corrected visual acuity was 0.08 in the right eye and 0.1 in the left. Ophthalmologic examination showed bilateral optic disc hyperemia and margin blurring, peripapillary telangiectasis, and a relative afferent pupil defect in his right eye. Fluorescein angiography showed no stain or leakage around the optic disc in the late phase. Visual field analysis showed central scotoma in the left eye and a near‐total defect in the right. Upon examination of the patient's mitochondrial DNA, a point mutation at nucleotide position 11778 was found, and the diagnosis of LHON was confirmed. Coenzyme Q10 was used to treat the patient.