顆粒状角膜ジストロフィ
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
- (砂糖などが)粒の,粒状の / (紙・革などが)表面がざらざらしている
- 角膜の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/04 05:20:46」(JST)
[Wiki en表示]
Granular corneal dystrophy type I, Numerous irregular shaped discrete crumb-like corneal opacities
Granular corneal dystrophy type II, Variable sized crumb-like opacities in the corneal stroma that have become fused in areas giving rise to elongated and stellate shapes
Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.
Granular corneal dystrophy has two types:
- Granular corneal dystrophy type I , also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmologist Arthur Groenouw in 1890.[1]
- Granular corneal dystrophy type II, also called Avellino corneal dystrophy or combined granular-lattice corneal dystrophy[2] is also a rare form of corneal dystrophy. 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]
Contents
- 1 Genetics
- 2 Clinical presentation
- 3 Treatment
- 4 See also
- 5 References
Genetics
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31.[4] The disorder is inherited in an autosomal dominant manner.[5] 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.
The gene TGFBI encodes the protein keratoepithelin.[5]
Clinical presentation
Granular corneal dystrophy is diagnosed during an eye examination by an ophthalmologist or optometrist. The lesions consist of central, fine, whitish granular lesions in the cornea. Visual acuity is slightly reduced.
Treatment
Corneal transplant is not needed except in very severe and late cases. Light sensitivity may be overcome by wearing tinted glassess.
See also
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 121900
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 607541
- ^ 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. doi:10.1016/s0161-6420(88)33226-4. PMID 3278259.
- ^ Munier, F. L.; Korvatska, E.; Djemaï, 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.
- ^ 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.
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Types of corneal dystrophy (H18.5, 371.5)
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| Epithelial and subepithelial |
- Epithelial basement membrane dystrophy
- Gelatinous drop-like corneal dystrophy
- Lisch epithelial corneal dystrophy
- Meesmann corneal dystrophy
- Subepithelial mucinous corneal dystrophy
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| Bowman's membrane |
- Reis–Bucklers corneal dystrophy
- Thiel-Behnke dystrophy
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| Stroma |
- Congenital stromal corneal dystrophy
- Fleck corneal dystrophy
- Granular corneal dystrophy
- Lattice corneal dystrophy
- Macular corneal dystrophy
- Posterior amorphous corneal dystrophy
- Schnyder crystalline corneal dystrophy
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Descemet's membrane and
endothelial |
- Congenital hereditary endothelial dystrophy
- Fuchs' dystrophy
- Posterior polymorphous corneal dystrophy
- X-linked endothelial corneal dystrophy
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Index of the eye
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| Description |
- Anatomy
- Physiology
- Phenomena
- appearance
- visual
- optical illusions
- proteins
- Development
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| Disease |
- Congenital
- Corneal dystrophy
- Neoplasms and cancer
- Other
- Symptoms and signs
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|
| Treatment |
- Procedures
- Drugs
- infection
- glaucoma and miosis
- mydriatics
- vascular
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UpToDate Contents
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English Journal
- Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty for Recurrence of Granular Corneal Dystrophy in Postkeratoplasty Eyes.
- Taneja M1, Rathi VM, Murthy SI, Bagga B, Vaddavalli PK.
- Cornea.Cornea.2016 Nov 2. [Epub ahead of print]
- PURPOSE: To report the clinical and visual outcome of sutureless femtosecond laser-assisted anterior lamellar keratoplasty (FALK) for recurrent granular corneal dystrophy (GCD) in patients who had previously undergone penetrating keratoplasty and phototherapeutic keratectomy (PTK) performed for recu
- PMID 27811566
- Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.
- Loganathan SK1, Schneider HP2, Morgan PE3, Deitmer JW2, Casey JR4.
- American journal of physiology. Cell physiology.Am J Physiol Cell Physiol.2016 Nov 1;311(5):C735-C748. doi: 10.1152/ajpcell.00078.2016. Epub 2016 Aug 24.
- SLC4A11, a member of the SLC4 family of bicarbonate transporters, is a widely expressed integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause some cases of the blinding corneal dystrophies, congenital hereditary endothelial dystrophy, and Fuchs endothelial corneal dyst
- PMID 27558157
- Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(ArgR555WTrp) Mutation in TGFBI.
- Kattan JM1, Serna-Ojeda JC, Sharma A, Kim EK, Ramirez-Miranda A, Cruz-Aguilar M, Cervantes AE, Frausto RF, Zenteno JC, Graue-Hernandez EO, Aldave AJ.
- Cornea.Cornea.2016 Oct 12. [Epub ahead of print]
- PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (T
- PMID 27741017
Japanese Journal
- Mutation Analysis of the TGFBI Gene in Vietnamese with Granular and Avellino Corneal Dystrophy
- CUNG Le Xuan,HA Nguyen Thanh,CHAU Hoang Minh,THANH Ton Kim,FUJIKI Keiko,MURAKAMI Akira,HIRATSUKA Yoshimune,KANAI Atsushi
- Japanese journal of ophthalmology 48(1), 12-16, 2004-01-01
- NAID 10012208666
- A Novel Mutation of the TGFBI Gene Found in a Vietnamese Family with Atypical Granular Corneal Dystrophy
- HA Nguyen Thanh,LE XUAN Cung,CHAU Hoang Minh,THANH Ton Kim,FUJIKI Keiko,MURAKAMI Akira,KANAI Atsushi
- Japanese journal of ophthalmology 47(3), 246-248, 2003-05-01
- NAID 10013678169
Related Links
- Granular corneal dystrophy (GCD), an IC3D category 1 dystrophy, is an autosomal-dominant, bilateral, noninflammatory condition that results in deposition of discrete, irregularly shaped opacities in the cornea by ...
- Changes of Clinical Manifestation of Granular Corneal Deposits Because of Recurrent Corneal Erosion in Granular Corneal Dystrophy Types 1 and 2 Han KE, Chung WS, Kim T, Kim KS, Kim TI, Kim EK.
★リンクテーブル★
[★]
- 英
- granular corneal dystrophy
- 同
- グレーノーI型角膜ジストロフィー Groenouw type I corneal dystrophy
[★]
- 英
- granular corneal dystrophy
[★]
- (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。
[★]
- 関
- granule、particulate
[★]
- 関
- cornea
[★]
角膜ジストロフィー