Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan.

Kaori Ueda,Hitoshi Ishikawa,Masato Wakakura,Makoto Nakamura,Fumio Shiraga,Yuki Morizane,Keigo Shikishima

doi:10.1016/j.je.2017.02.001

Abstract

BackgroundLeber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan during 2014.MethodsSequential questionnaires were sent to 1397 facilities, which included all of the university hospitals in Japan, and they were certified by either the Japanese Ophthalmological Society or the Japanese Neuro-Ophthalmological Society. We calculated the incidence number (Ir) as the number of patients who developed LHON in 2014 and its 95% confidence interval.ResultsWe received 861 responses to the first questionnaire, where 49 facilities reported 72 cases (67 were male and 5 were female) of newly developed LHON during 2014. Ir was calculated as 117, and the 95% confidence interval ranged from 81 to 153. For the second questionnaire, responses were received from 30 facilities, where the median age at onset was 38 years for males and 30 years for females, and 86.5% of cases possessed the mtDNA ND4/G11778A mutation.ConclusionApproximately 120 cases of newly developed LHON were reported during 2014 in Japan, and 93.2% were males.

Highlights

Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy characterized by acute or subacute, bilateral, painless central vision loss and eventual optic atrophy.1e3LHON was the first disease to be identified as a mitochondrial DNA mutation-associated human disorder
Over 95% of patients with LHON have one of the three primary point mutations in their mitochondrial DNA (mtDNA) genes
The diagnosis of LHON was based on the designated criteria for LHON established by the Research Committee on the Epidemiology of Intractable Diseases of Retinochoroidal and Optic Nerve Atrophy in conjunction with the Japanese Neuro-ophthalmological Society, and authorized by the Ministry of Health, Labour and Welfare, as listed in Table 1.7 According to the designated criteria, the diagnosis of LHON was classified into the following three categories: definite, probable, and possible LHON cases

Summary

Introduction

Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy characterized by acute or subacute, bilateral, painless central vision loss and eventual optic atrophy.1e3. LHON was the first disease to be identified as a mitochondrial DNA (mtDNA) mutation-associated human disorder. Over 95% of patients with LHON have one of the three primary point mutations in their mtDNA genes. These point mutations affect genes that encode. Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. We estimated the annual incidence of molecularly confirmed LHON in Japan during

Methods

Results

Conclusion