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Show Poster 190 Spontaneous Recovery of Quality of Life in Leber Hereditary Optic Neuropathy with G11778A Mutation Xiaojun Zhang1, Shilei Cui1, Hanqiu Jiang1, Jingting Peng1 Beijing Tongren Hospital, Capital Medical University, Beijing, China 1 Introduction: Leber hereditary optic neuropathy(LHON) is characterized by progressive bilateral central vision loss leading to impaired vision related quality of life. The aim of this study is to evaluate the natural history of vision related function in daily living activities. Methods: Genetically confirmed LHON patients with G11778A mutation were prospectively evaluated with Visual Function Index 14 Questionnaire (VF-14) at 6 months, 1-year, and 3-year follow-up time-points after the involvement of the second eye. Results: Fifty-five LHON patients with G11778A mutation were included, with mean age of 16.3years (SD 6.1,range 10-38 years). The mean VF-14 scores at 6months, 1-year and 3-year follow-up was 18.0 (SD 19.2, range 0.0−85.4), 19.9 (SD 20.0, range 0.0−85.4) and 20.7 (SD 20.2, range 0.0-85.4) respectively, which showed statistically significant improvement comparing 6-months with 1-year and 1year with 3-year followup(P<0.001, P<0.001). The items that were significantly improved at 1-year compared with the 6 months follow-up included seeing steps or curbs or stairs (p<0.01), doing handiwork (p<0.05), playing sports (p<0.05), cooking (p<0.01), and watching television (p<0.05). At 3-year follow-up, only scores for cooking (p<0.05) and watching television (p<0.05) further significantly improved compared to those at 1-year follow-up. The three items that did not show significant improvement during 3 years of follow up were reading small print, reading a newspaper or book, and reading signs. Conclusions: Although permanent central visual loss is the main clinical feature of LHON patients with the G11778A mutation, some vision related function of daily living activities, such as seeing curbs or stairs, cooking, watching television and playing sports, showed spontaneous improvement over time. Functions requiring more central vision such as reading small print, newspaper or book and signs remained the most difficult tasks of daily living for LHON patients with G11778A mutation. References: 1. Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, et al. Quality of life in patients with Leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2009;50:3112-3115. 2. Lam BL, Feuer WJ, Schiffman JC, Porciatti V, Vandenbroucke R, et al. Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy: preparation for gene therapy clinical trial. JAMA Ophthalmol. 2014;132:428-436. Keywords: Optic neuropathy, Genetic Disease Financial Disclosures: The authors had no disclosures. Grant Support: None. 346 | North American Neuro-Ophthalmology Society |
