Avellino dystrophy

アベリノ角膜ジストロフィー

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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English Journal

• Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies.

• Huo YN, Yao YF, Yu P.SourceDepartment of Ophthalmology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
• Journal of Zhejiang University. Science. B.J Zhejiang Univ Sci B.2011 Sep;12(9):687-93.
• OBJECTIVE: To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation.METHODS: Two patients with Avellino corneal dystrophy (ACD), four patients with lattice corneal dystrophy type I (LCD I) from one family, and
• PMID 21887843

• Altered mitochondrial function in type 2 granular corneal dystrophy.

• Kim TI, Kim H, Lee DJ, Choi SI, Kang SW, Kim EK.SourceCorneal Dystrophy Research Institute, the Department of Ophthalmology, Yonsei University College of Medicine, Seoul, South Korea.
• The American journal of pathology.Am J Pathol.2011 Aug;179(2):684-92. Epub 2011 May 31.
• Type 2 granular corneal dystrophy (GCD2) is caused by point mutation R124H in the transforming growth factor-β-induced gene (TGFBI) and is characterized by age-dependent progression of corneal deposits. Mitochondrial features in heterozygous GCD2 and normal corneal tissues was evaluated using elect
• PMID 21699880

Japanese Journal

• アベリノ角膜ジストロフィに対するレーザー屈折矯正角膜切除術後の白内障手術における屈折誤差 (特集 第60回日本臨床眼科学会講演集(7))

• 高木 誠,陶山 洋志,中村 護 [他]
• 臨床眼科 61(9), 1699-1703, 2007-09
• NAID 40015650466

• Avellino角膜ジストロフィに対するエキシマレーザー治療的角膜切除術術後の再発症例の検討 (特集 第60回日本臨床眼科学会講演集(5))

• 安田 明弘,柿木 一邦,山口 達夫
• 臨床眼科 61(7), 1261-1265, 2007-07
• NAID 40015573045

• Allelic homogeneity in Avellino corneal dystrophy due to a founder effect

• Tsujikawa Kaoru,Tsujikawa Motokazu,Watanabe Hitoshi [他],MAEDA Naoyuki,INOUE Yoshitsugu,FUJIKADO Takashi,TANO Yasuo
• Journal of human genetics 52(1), 92-97, 2007-01-01
• NAID 10018515296

Related Links

• Cornea & External Diseases-Avellino Dystrophy

Avellino (Granular-lattice) Dystrophy Autosomal dominantly inherited with very high penetrance and moderately variable expressivity. Clinical features: Symptoms: glare, foreign body sensation, decreased vision or ...

• Corneal Dystrophy, Avellino Type | Hereditary Ocular Diseases

There is little to support the designation of a corneal dystrophy as ‘Avellino type’ but it is included in this database because it is entrenched in the literature. It has features of both lattice dystrophy, type I, and granular dystrophy type ...

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Avellino corneal dystrophy, Avellino dystrophy

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アベリノ Avellino 角膜 : 71 件
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• (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。