Abstract:

 Objective To study the characteristics of Leber hereditary optic neuropathy (LHON) for early diagnosing and avoiding unnecessary treatment. Design Retrospective case series. Participants 79 cases (156 eyes) who were diagnosed as LHON (detection of optic nerve damage and mtDNA gene positive). Methods Retrospective analysis the basic data, disease characteristics, visual acuity, pupil and relative afferent pupillary defect (RAPD), visual field of 79 cases (156 eyes) with LHON, collecting its course, clinical characteristic clinical manifestation. Main Outcome Measures Gender, age, visual acuity, visual field, pupil and RAPD and the results of mtDNA test. Results The mean age of scheduled patients was 20.94±11.9 years (median 17 years), with 67 males（133 eyes，84.81%）. 66 cases were misdiagnosed as optic neuritis. 16 cases (20.25%) had family histories. Both eyes suffered from vision loss at the same time in 43 cases (53.43%)， and 34 patients (43.04%) secondary attack of both eyes. MtDNA mutations of 11778G>A, 14484T>C, 3460G>A accounted for 87.34% of the total. The pupil was sensitive to light  in 53 cases (67.09%). 67.90% of cases showed central or paracentral scotoma. Within 3 months of onset,  fundus examination showed optic disc edema.  Optic disc pale as more obvious 6 months after onset. In 71.80% of patients, the vision was less than 0.1. The longer duration, the higher the proportion of low vision was found. Conclusion LHON mainly happened among middle-aged male, mostly under 25 years. The patients suffered from serious vision loss, but the pupil was  sensitive of light. Visual field test usually showed large center or near the center scotoma. (Ophthalmol CHN, 2017, 26: 343-346)

Key words: Leber hereditary optic neuropathy, visual field, pupil