chorioretinal dystrophy

網脈絡膜ジストロフィー

WordNet

1. any degenerative disorder resulting from inadequate or faulty nutrition

PrepTutorEJDIC

1. 栄養障害 / 筋萎縮症,筋ジストロフィー(筋肉の退化・萎縮・運動障害などが起こる病気)

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• 1. 網膜色素変性症：臨床症状および診断 retinitis pigmentosa clinical presentation and diagnosis
• 2. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
• 3. 網膜色素変性症：治療 retinitis pigmentosa treatment
• 4. 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
• 5. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis

English Journal

• UTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES.

• Li Q1, Li Y, Zhang X, Xu Z, Zhu X, Ma K, She H, Peng X.
• Retina (Philadelphia, Pa.).Retina.2015 Oct;35(10):2074-84. doi: 10.1097/IAE.0000000000000592.
• PURPOSE: To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple imaging modalities.METHODS: Sixteen participants clinically diagnosed as BCD were included in the retrospective study and were categorized into 3 stages according to fundus photography. Eleven patients wer
• PMID 25978730

• Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

• Balikova I1,2, Robson AG1,3, Holder GE1,3, Ostergaard P4, Mansour S5, Moore AT1,3.
• Acta ophthalmologica.Acta Ophthalmol.2015 May 21. doi: 10.1111/aos.12759. [Epub ahead of print]
• PURPOSE: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 muta
• PMID 25996076

• Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.

• Synofzik M1, Kernstock C2, Haack TB3, Schöls L1.
• Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2015 May;86(5):580-1. doi: 10.1136/jnnp-2014-307793. Epub 2014 Apr 30.
• PMID 24790214

Japanese Journal

• 性腺機能低下症を合併した小脳性運動失調症の1例

• 小林 史和,栗原 康,長坂 加織 [他],飯田 晴康,新藤 和雅,瀧山 嘉久
• 臨床神経学 50(2), 98-102, 2010-02-01
• NAID 10026291476

• Bietti crystalline chorioretinal dystrophyの同胞例 (特集 第58回日本臨床眼科学会講演集(7))

• 瀬川 敦,松本 行弘,筑田 眞
• 臨床眼科 59(9), 1547-1554, 2005-09
• NAID 40006917789

• 遺伝性網膜脈絡膜疾患の分子遺伝学 : 疾患遺伝子同定の戦略

• 真島 行彦
• 日本眼科學会雜誌 103(3), 165-177, 1999-03-10
• NAID 10007896526

Related Links

• Hereditary Chorioretinal Dystrophies - Macula.Org

Hereditary chorioretinal dystrophies are group of inherited, or genetic, conditions that affect the choroid, the retinal pigment epithelium (the layer of the retina that lies between the photoreceptors and the choroid), or the macula and surrounding  ...

• Chorioretinal atrophy

Visually Impairing Conditions. by Dr Andrew Blaikie for VI Scotland. Medical Information on Chorioretinal Atrophy. For whom is this information intended? The information contained in this document is intended for use primarily by parents, ...

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★リンクテーブル★

リンク元	「網脈絡膜ジストロフィー」
関連記事	「dystrophy」

「網脈絡膜ジストロフィー」

　　[★]

英

chorioretinal dystrophy

同

網脈絡膜変性疾患？

関

[[]]

• 脳回点状脈絡膜萎縮症：周辺部網膜に輪状の網膜脈絡膜萎縮病片が多発。
• コロイデレミア：XR。臨床症状は網膜色素変性症に似る
• 中心性輪紋状脈絡膜萎縮症

• X連鎖劣性網膜分離症：網膜分離症の一型。先天性のものはXR。黄斑部に車軸状の類嚢胞変性伴い視力低下。
• Wagner網膜硝子体変性
• Goldmann-Favre網膜硝子体変性

• 先天停止性夜盲：小口病：
• 眼底白点症

「dystrophy」

　　[★]

• n.

• (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー

栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。