臨床眼科65巻13号

2011年12月発行

連載 つけよう！　神経眼科力・21

遺伝性視神経疾患のトピックス

著者： 中馬秀樹¹

所属機関： ¹宮崎大学医学部感覚運動医学講座眼科学分野

ページ範囲：P.1890 - P.1894

　遺伝子異常による神経眼科疾患は多いのですが，今回は視神経疾患，特に日常診療で遭遇する機会のあるレーベル遺伝性視神経症（Leber's hereditary optic neuropath：LHON）と，常染色体優性視神経萎縮（autosomal dominant optic neuropathy：DOA）について書いてみたいと思います。

参考文献

1）Edwards TL：Is second eye involvement in Leber' hereditary optic neuropathy due to retro-chiasmal spread of apoptosis?　Neuro-ophthalmology　31：87-98, 2007

2）Wakakura M, Fujie W, Emoto Y：Initial temporal field defect in Leber hereditary optic neuropathy. Jpn J Ophthalmol　53：603-607, 2009

3）Newman NJ, Biousse V, David R et al：Prophylaxis for second eye involvement in Leber's hereditary optic neuropathy：an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. AJO　140：407-415, 2005

4）Lam BL, Feuer WJ, Abukhalil F et al：Leber hereditary optic neuropathy gene therapy clinical trial recruitment. Arch Ophthalmol　128：1129-1135, 2010

5）Newman NJ：Hereditary optic neuropathis：from the mitochondria to the optic nerve. Am J Ophthalmol　140：517-523, 2005

6）Aung T, Ocaka L, Ebenezer ND et al：A major marker for normal tension glaucoma：association with polymorphisms in the OPA1 gene. Hum Genet　110：52-56, 2002

7）Ju WK, Kim YK, Lindsey JD et al：Elevated hydrostatic pressure triggers release of OPA1 and cytochrome C, and induces apoptotic cell death in different RGC-5 cells. Mol Vis　15：120-134, 2009

8）Ju WK, Kim YK, Angert M et al：Memantine blocks mitochondrial OPA1 and cytochrome C release and subsequent apoptotic cell death in glaucomatous retina. Invest Ophthalmol Vis Sci　50：707-716, 2009

9）Ju WK, Kim YK, Lindsey JD et al：Intraocular pressure elevation induces mitochondrial fission and triggers OPA1 release in glaucomatous optic nerve. Invest Ophthalmol Vis Sci　49：4903-4911, 2008

10）Harding AE, Sweeney MG, Miller DH et al：Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain　115：979-989, 1992

11）Verny C, Loiseau D, Scherer C et al：Multiple sclerosis-like disorder in OPA1-related autosomal dominat optic atrophy. Neurology　70：1152-1153, 2008

12）Loveland B, Wang CR, Yonekawa H et al：Maternally transmitted histocompatibility antigen of mice：a hydrophobic peptide of a mitochondrially encoded protein. Cell　60：971-980, 1990

13）Chung KW, Kim SB, Park KD et al.：Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2（MFN2）mutations. Brain　129：2103-2118, 2006

14）室谷英治・大久保真司・東出朋巳・他：mitofusin2の遺伝子変異を認めた遺伝性運動感覚ニューロパチーⅥ型の一例．神経眼科　25（増補）：91，2008