アベリノ角膜ジストロフィー
WordNet
- any degenerative disorder resulting from inadequate or faulty nutrition
- the transparent dome-shaped anterior portion of the outer covering of the eye; it covers the iris and pupil and is continuous with the sclera
- of or related to the cornea
PrepTutorEJDIC
- 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)
- (眼球の)角膜
- 角膜の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/15 20:32:11」(JST)
[Wiki en表示]
| Granular corneal dystrophy type II |
| Classification and external resources |
Variable sized crumb-like opacities in the corneal stroma that have become fused in areas giving rise to elongated and stellate shapes. |
| ICD-10 |
H18.5 |
| ICD-9 |
371.53 |
| OMIM |
607541 |
Granular corneal dystrophy type II (CGD2), also called Avellino corneal dystrophy (ACD) or combined granular-lattice corneal dystrophy,[1] is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant pattern.[2] The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino.[3]
Genetics
Granular corneal dystrophy type II has an autosomal dominant pattern of inheritance.
CGD2 is caused by a mutation in the TGFBI gene, located on chromosome 5q31.[4] The disorder is inherited in an autosomal dominant manner.[2] This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 607541
- ^ a b Paliwal, P.; Gupta, J.; Tandon, R.; Sharma, A.; Vajpayee, R. B. (Oct 2009). "Clinical and Genetic Profile of Avellino Corneal Dystrophy in 2 Families from North India". Archives of Ophthalmology 127 (10): 1373–1376. doi:10.1001/archophthalmol.2009.262. PMID 19822856. edit
- ^ Folberg R, Alfonso E, Croxatto JO, Driezen NG, Panjwani N, Laibson PR, Boruchoff SA, Baum J, Malbran ES, Fernandez-Meijide R (January 1988). "Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families". Ophthalmology 95 (1): 46–51. PMID 3278259.
- ^ Munier, F. L.; Korvatska, E.; Djema, A.; Paslier, D. L.; Zografos, L.; Pescia, G.; Schorderet, D. F. (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nature Genetics 15 (3): 247–251. doi:10.1038/ng0397-247. PMID 9054935. edit
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Types of human corneal dystrophy (H18.5, 371.5)
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| Epithelial and Subepithelial |
Epithelial basement membrane dystrophy (OMIM 121820), called a corneal dystrophy but in reality this condition is not inherited in the majority of cases, representing a non-specific reaction to a variety of corneal insults. · Subepithelial mucinous corneal dystrophy · Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy, OMIM 122100) · Lisch epithelial dystrophy · Gelatinous drop-like corneal dystrophy
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| Bowman layer |
Reis-Bucklers corneal dystrophy (CDB1) aka. Granular corneal dystrophy type III · Thiel-Behnke dystrophy (CDB2)
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| Stroma |
Lattice corneal dystrophy type I · Lattice corneal dystrophy type II · Granular corneal dystrophy type I · Granular corneal dystrophy type II · Also Granular corneal dystrophy type III see Reis-Bucklers corneal dystrophy above · Macular corneal dystrophy · Schnyder corneal dystrophy · Congenital stromal dystrophy (CSCD) · Fleck dystrophy · Posterior amorphous corneal dystrophy
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| Descemet membrane and Endothelial |
Fuchs' dystrophy · Posterior polymorphous dystrophy type 1 · Posterior polymorphous dystrophy type 2 · Posterior polymorphous dystrophy type 3 · Congenital endothelial dystrophy type 1 (CHED1) · Congenital endothelial dystrophy type 2 (CHED2) · X-linked endothelial corneal dystrophy
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anat(g/a/p)/phys/devp/prot
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UpToDate Contents
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English Journal
- Autophagy in granular corneal dystrophy type 2.
- Choi SI1, Kim EK2.
- Experimental eye research.Exp Eye Res.2016 Mar;144:14-21. doi: 10.1016/j.exer.2015.09.008. Epub 2015 Sep 18.
- Autophagy is a lysosomal degradative process that is essential for cellular homeostasis and metabolic stress adaptation. Defective autophagy is involved in the pathogenesis of many diseases including granular corneal dystrophy type 2 (GCD2). GCD2 is an autosomal dominant disorder caused by substitut
- PMID 26386150
- Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts.
- Maeng YS1, Lee GH1, Choi SI1, Kim KS2, Kim EK3,4.
- BMC medical genomics.BMC Med Genomics.2015 Nov 9;8:74. doi: 10.1186/s12920-015-0151-8.
- BACKGROUND: TGFβ1-induced expression of transforming growth factor β-induced protein (TGFBIp) and extracellular matrix (ECM) genes plays a major role in the development of granular corneal dystrophy type 2 (GCD2: also called Avellino corneal dystrophy). Although some key transcription factors are
- PMID 26553048
- Inhibitory Effect of Tranilast on Transforming Growth Factor-Beta-Induced Protein in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
- Kim TI1, Lee H, Hong HK, Kim KS, Choi SI, Maeng YS, Kim EK.
- Cornea.Cornea.2015 Aug;34(8):950-8. doi: 10.1097/ICO.0000000000000466.
- PURPOSE: To investigate the effects of tranilast, an inhibitor of chemical mediators and fibroblast proliferation, on the expression of transforming growth factor-beta (TGF-β)-induced protein (TGFBIp) in wild-type (WT) and homozygous (HO) granular corneal dystrophy type 2 corneal fibroblasts.METHOD
- PMID 26020822
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))
- 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))
★リンクテーブル★
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- 英
- Avellino corneal dystrophy, Avellino dystrophy
- 同
- アベリノ角膜ジストロフィ
- 関
- 角膜ジストロフィー
[show details]
アベリノ Avellino 角膜 : 71 件
アヴェッリーノ Avellino 角膜 : 約 4 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。
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- 関
- cornea
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角膜ジストロフィー