Leber optic neuropathy

レーベル遺伝性視神経症

WordNet

1. optical properties; "the optics of a telescope"
2. the branch of physics that studies the physical properties of light
3. any pathology of the peripheral nerves

PrepTutorEJDIC

1. 光学
2. (・・・を)選ぶ《+『for』+『名』》;(・・・するほうを)選ぶ《+『to』 do》
3. 目の;視覚の

UpToDate Contents

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• 1. 視神経症 optic neuropathies
• 2. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
• 3. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 4. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 5. 乳頭浮腫の概要および鑑別診断 overview and differential diagnosis of papilledema

English Journal

• Is there treatment for Leber hereditary optic neuropathy?

• Peragallo JH1, Newman NJ.
• Current opinion in ophthalmology.Curr Opin Ophthalmol.2015 Nov;26(6):450-7. doi: 10.1097/ICU.0000000000000212.
• PURPOSE OF REVIEW: To discuss recent advances in potential treatments for Leber hereditary optic neuropathy (LHON), a typically visually devastating hereditary optic neuropathy caused by mutations in the mitochondrial genome.RECENT FINDINGS: Idebenone has been proposed as a means of bypassing defect
• PMID 26448041

• Oxidative stress in inherited mitochondrial diseases.

• Hayashi G1, Cortopassi G2.
• Free radical biology & medicine.Free Radic Biol Med.2015 Nov;88(Pt A):10-7. doi: 10.1016/j.freeradbiomed.2015.05.039. Epub 2015 Jun 12.
• Mitochondria are a source of reactive oxygen species (ROS). Mitochondrial diseases are the result of inherited defects in mitochondrially expressed genes. One potential pathomechanism for mitochondrial disease is oxidative stress. Oxidative stress can occur as the result of increased ROS production
• PMID 26073122

• Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice.

• Yu H1, Koilkonda RD1, Chou TH1, Porciatti V1, Mehta A2, Hentall ID3, Chiodo VA4, Boye SL4, Hauswirth WW4, Lewin AS5, Guy J6.
• Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2015 Oct 20;112(42):E5689-98. doi: 10.1073/pnas.1506129112. Epub 2015 Oct 5.
• Considerable evidence supports mutations in mitochondrial genes as the cause of maternally inherited diseases affecting tissues that rely primarily on oxidative energy metabolism, usually the nervous system, the heart, and skeletal muscles. Mitochondrial diseases are diverse, and animal models curre
• PMID 26438859

Japanese Journal

• レーベル遺伝性視神経症の最前線 (特集 視神経炎と視神経症 : 全身と眼の架け橋)

• あたらしい眼科 33(5), 671-677, 2016-05
• NAID 40020862829

• Leber遺伝性視神経症認定基準

• 日本眼科学会雑誌 119(5), 339-346, 2015-05
• NAID 40020472925

• Macular thickness changes in a patient with Leber's hereditary optic neuropathy

• BMC ophthalmology 15, 27, 2015-03-18
• NAID 120005606032

Related Links

• Leber hereditary optic neuropathy - Genetics Home Reference

Consumer-friendly information about human genetics from the U.S. National Library of Medicine. ... Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's ...

• LHON

Adjusting to LHON Losing central vision is scary. Figuring out what to do when it happens is confusing, and there are many issues to address all at once. This site was created by a family affected by LHON. By sharing what we ...

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★リンクテーブル★

リンク元	「レーベル遺伝性視神経症」
関連記事	「opt」「optic」「optics」「neuropathy」

「レーベル遺伝性視神経症」

　　[★]

英

Leber hereditary optic neuropathy, LHON, Leber's hereditary optic neuropathy

同

レーバー遺伝性視神経萎縮症 Leber遺伝性視神経萎縮症 Leber hereditary optic atrophy、レーバー視神経萎縮症　Leber optic neuropathy, レーベル病 Leber disease Leber's disease

関

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[show details]

レーベル遺伝性視神経萎縮症 : 2 件
レーバー遺伝性視神経萎縮症 : 85 件
レーベル遺伝性視神経症 : 約 12,700 件
レーバー遺伝性視神経症 : 42 件

• ミトコンドリアDNA点変異による遺伝性視神経疾患

「opt」

　　[★]

• v.

• 選ぶ、選択する

関

choice、choose、elect、elective、option、optional、prefer、select、selection、selective

　

「optic」

　　[★]

• adj.

• 視覚性の、視覚の

関

ocular、vision、visual

　

「optics」

　　[★]

• 光学、オプティクス

関

optical

　 　 　

「neuropathy」

　　[★] ニューロパチー

同

NARP