斑状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
- a small yellowish central area of the retina that is rich in cones and that mediates clear detailed vision (同)macula_lutea, macular_area, yellow_spot
- 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）』「2017/03/10 19:37:05」(JST)
[Wiki en表示]
| Macular corneal dystrophy |
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| Colloidal iron staining shows deposition of glycosaminoglycans in the cornea |
| Classification and external resources |
| ICD-10 |
Xxx.x |
| ICD-9-CM |
xxx |
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[edit on Wikidata]
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Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890.[1][2]
Contents
- 1 Signs and symptoms
- 2 Genetics
- 3 Treatment
- 4 See also
- 5 References
Signs and symptoms
Onset occurs in the first decade, usually between ages 5 and 9. The disorder is progressive. Minute, gray, punctate opacities develop. Corneal sensitivity is usually reduced. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there.[3]
Genetics
Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal configuration of keratan sulfate. Most cases of MCD are caused by mutations in CHST6 gene.[4]
The gene CHST6 is a carbohydrate sulfotransferase encoding an enzyme designated corneal N-acetylglucosamine-6-sulfotransferase. In MCD type I, various mutations lead to inactivation of the enzyme, in MCD type II, inactivation is caused by large deletions and/or replacements in the gene.[3]
Treatment
Corneal transplantation is often required.
See also
References
- ^ Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkunde. 1890;21:281–289.
- ^ Natalie Afshari. "Macular corneal dystrophy". eMedicine.
- ^ a b Online Mendelian Inheritance in Man (OMIM) 217800
- ^ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704.
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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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UpToDate Contents
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English Journal
- Endothelium-in versus endothelium-out for Descemet membrane endothelial keratoplasty graft preparation and implantation.
- Parekh M1, Ruzza A1, Ferrari S1, Ahmad S2,3, Kaye S2,3, Ponzin D1, Romano V2,3.
- Acta ophthalmologica.Acta Ophthalmol.2017 Mar;95(2):194-198. doi: 10.1111/aos.13162. Epub 2016 Jul 16.
- PURPOSE: To evaluate the difference between endothelium-in and endothelium-out for Descemet membrane endothelial keratoplasty (DMEK) preparation and implantation using injection method.METHODS: The study was a randomized, comparative, institutional, laboratory investigation. Eighteen human donor cor
- PMID 27422483
- Fuch's dystrophy associated with radial keratotomy: Lamellar or perforating keratoplasty?
- Rodriguez-Ausin P1, Antolin-Garcia D2, Santamaria Garcia L2, Blazquez-Fernandez AB2.
- Archivos de la Sociedad Espanola de Oftalmologia.Arch Soc Esp Oftalmol.2016 Dec 7. pii: S0365-6691(16)30221-0. doi: 10.1016/j.oftal.2016.10.018. [Epub ahead of print]
- CASE REPORT: A 70 year-old male patient with a history of radial keratotomy suffering from Fuch's dystrophy and a cataract. The patient received a two-step surgery: lens phacoemulsification and intraocular lens implant, followed by descemet stripping automated endothelial keratoplasty in both eyes,
- PMID 27956322
- Fuchs' endothelial corneal dystrophy: a controlled prospective study on visual recovery after endothelial keratoplasty.
- Nielsen E1, Ivarsen A1, Kristensen S2, Hjortdal J1.
- Acta ophthalmologica.Acta Ophthalmol.2016 Dec;94(8):780-787. doi: 10.1111/aos.13126. Epub 2016 Jun 7.
- PURPOSE: To investigate the determining factors of vision and subjective outcome after Descemet's stripping automated endothelial keratoplasty (DSAEK) for Fuchs' endothelial dystrophy (FECD).METHODS: In a prospective study, 41 FECD patients who received DSAEK were compared to 40 cataract patients wi
- PMID 27273977
Japanese Journal
- 黄斑円孔を伴った Fuchs 角膜内皮ジストロフィの1例
- <原著>Carbohydrate sulfotransferase gene6遺伝子のArg211Trp変異をもつ斑状角膜ジストロフィ
- Carbohydrate sulfotransferase gene6遺伝子のArg211Trp変異をもつ斑状角膜ジストロフィ
Related Links
- Macular corneal dystrophy (MCD), an IC3D category 1 dystrophy, is an autosomal-recessive condition. It is the least common of the 3 major stromal corneal dystrophies but the most severe. It is characterized by multiple irregular gray-white opacities in the corneal stroma that extend out into the ...
- Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. Klintworth GK, Meyer R, Dennis R, Hewitt AT, Stock EL, Lenz ME, Hassell JR, Stark WJ Jr, Kuettner KE, Thonar EJ. Ophthalmic Paediatr Genet. 1986 Dec; 7 ...
★リンクテーブル★
[★]
- 英
- macular corneal dystrophy
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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。
[★]
- 関
- macula、macula lutea、maculae、maculate、macule、plaque、speckled、variegated、yellow spot
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- 同
- maculo
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- 関
- cornea
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角膜ジストロフィー