遺伝性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
- 世襲の,親譲りの / 遺伝的な,遺伝性の
- 角膜の
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/09/05 17:01:06」(JST)
[Wiki en表示]
Main article: corneal dystrophy
| Corneal dystrophy (human) |
| Classification and external resources |
| ICD-10 |
H18.5 |
| ICD-9 |
371.5 |
| MeSH |
D003317 |
Human corneal dystrophy is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the human eye called the cornea. There are a number of rare forms varying in expression and degree of vision loss.[1]
The International Committee for Classification of Corneal Dystrophies (IC3D) was established in 2005 and created a new classification system employing the latest data of molecular biology and genetics.[2]
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Contents
- 1 List
- 2 Other conditions affecting cornea
- 3 References
- 4 External links
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List
Types include:
| Location |
OMIM |
Gene |
Name |
| Descemet/endothelial |
609140 |
COL8A2 |
Posterior polymorphous dystrophy type 2 |
| Stroma |
607541 |
TGFBI |
Granular corneal dystrophy type II (also Avellino corneal dystrophy) |
| Stroma |
610048 |
DCN |
Congenital stromal dystrophy (CSCD) |
| Stroma |
121800 |
UBIAD1 |
Schnyder corneal dystrophy |
| Epithelial and Subepithelial |
121820 |
TGFBI |
Epithelial basement membrane dystrophy, 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.[1] |
| Descemet/endothelial |
136800 |
COL8A2 |
Fuchs' dystrophy, 1 |
| Descemet/endothelial |
613268 |
SLC4A11 |
Fuchs' dystrophy, 4 |
| Descemet/endothelial |
613270 |
ZEB1 |
Fuchs' dystrophy, 6 |
| Epithelial and subepithelial |
204870 |
TACSTD2 |
Gelatinous drop-like corneal dystrophy |
| Stroma |
121900 |
TGFBI |
Granular corneal dystrophy type I (Groenouw) |
| Descemet/endothelial |
122000 |
VSX1 |
Corneal dystrophy, hereditary polymorphous posterior |
| Stroma |
122200 |
TGFBI |
Lattice corneal dystrophy type I |
| Stroma |
608471 |
TGFBI |
Corneal dystrophy, lattice type IIIA |
| Descemet/endothelial |
609141 |
ZEB1 |
Posterior polymorphous dystrophy type 3 |
| Bowman layer |
608470 |
TGFBI |
Reis-Bucklers corneal dystrophy (CDB1) |
| Bowman layer |
602082 |
TGFBI |
Thiel-Behnke dystrophy (CDB2) |
| Descemet/endothelial |
217700 |
SLC4A11 |
Congenital endothelial dystrophy type 2 (CHED2) |
| Descemet/endothelial |
217400 |
SLC4A11 |
Corneal endothelial dystrophy and perceptive deafness |
| Stroma |
|
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Macular corneal dystrophy |
| Epithelial and subepithelial |
122100 |
|
Meesmann juvenile epithelial corneal dystrophy (MECD, Stocker-Holt dystrophy) |
| Epithelial and subepithelial |
|
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Subepithelial mucinous corneal dystrophy |
| Epithelial and subepithelial |
|
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Lisch epithelial dystrophy |
| Stroma |
|
|
Lattice corneal dystrophy type II |
| Stroma |
|
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Fleck dystrophy |
| Stroma |
|
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Posterior amorphous corneal dystrophy |
| Descemet/endothelial |
|
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Posterior polymorphous dystrophy type 1 |
| Descemet/endothelial |
|
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Congenital endothelial dystrophy type 1 (CHED1) |
| Descemet/endothelial |
|
|
X-linked endothelial corneal dystrophy |
Other conditions affecting cornea
References
- ^ a b Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC 2695576. PMID 19236704. http://www.ojrd.com/content/4//7.
- ^ Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK (December 2008). "The IC3D classification of the corneal dystrophies". Cornea 27 (Suppl 2): S1–83. doi:10.1097/ICO.0b013e31817780fb. PMC 2866169. PMID 19337156. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0277-3740&volume=27&issue=&spage=S1.
External links
- The IC3D Classification of the Corneal Dystrophies (PDF) - The Cornea Society website.
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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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Eye disease · pathology of the eye (H00–H59, 360–379)
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| Adnexa |
eyelid: inflammation (Stye, Chalazion, Blepharitis) · Entropion · Ectropion · Lagophthalmos · Blepharochalasis · Ptosis · Blepharophimosis · Xanthelasma · eyelash (Trichiasis, Madarosis)
lacrimal system: Dacryoadenitis · Epiphora · Dacryocystitis · Xerophthalmia
orbit: Exophthalmos · Enophthalmos · Orbital cellulitis · Periorbital cellulitis
conjunctiva: Conjunctivitis (Allergic conjunctivitis) · Pterygium · Pinguecula · Subconjunctival hemorrhage
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| Globe |
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Fibrous tunic
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sclera: Scleritis
cornea: Keratitis (Herpetic keratitis, Acanthamoeba keratitis, Fungal keratitis) · Corneal ulcer · Photokeratitis · Thygeson's superficial punctate keratopathy · Corneal dystrophy (Fuchs', Meesmann) · Keratoconus · Keratoconjunctivitis sicca · Keratoconjunctivitis · Corneal neovascularization · Kayser-Fleischer ring · Arcus senilis · Band keratopathy
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Vascular tunic
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Iris and ciliary body
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Iritis · Uveitis (Intermediate uveitis) · Iridocyclitis · Hyphema · Rubeosis iridis · Persistent pupillary membrane · Iridodialysis · Synechia
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Choroid
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Choroideremia · Choroiditis (Chorioretinitis)
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Lens
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Cataract · Aphakia · Ectopia lentis
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Retina
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Retinitis (Chorioretinitis, Cytomegalovirus retinitis) · Retinal detachment · Retinoschisis · Ocular ischemic syndrome/Central retinal vein occlusion · Retinopathy (Bietti's crystalline dystrophy, Coats disease, Diabetic retinopathy, Hypertensive retinopathy, Retinopathy of prematurity) · Macular degeneration · Retinitis pigmentosa · Retinal haemorrhage · Central serous retinopathy · Macular edema · Epiretinal membrane · Macular pucker · Vitelliform macular dystrophy · Leber's congenital amaurosis · Birdshot chorioretinopathy
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Other
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Glaucoma/Ocular hypertension · Floater · Leber's hereditary optic neuropathy · Red eye · Keratomycosis · Phthisis bulbi
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| Pathways |
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Optic nerve and
optic disc
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Optic neuritis · Papilledema (Foster Kennedy syndrome) · Optic atrophy/Optic neuropathy (Leber's hereditary optic neuropathy, Kjer's optic neuropathy) · Optic disc drusen · Toxic and nutritional optic neuropathy · Ischemic optic neuropathy (AION, PION)
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Ocular muscles,
binocular movement,
accommodation |
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Paralytic strabismus
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Ophthalmoparesis · Progressive external ophthalmoplegia · Palsy (III, IV, VI) · Kearns-Sayre syndrome
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Other strabismus
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Esotropia/Exotropia · Hypertropia · Heterophoria (Esophoria, Exophoria) · Brown's syndrome · Duane syndrome
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Other binocular
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Conjugate gaze palsy · Convergence insufficiency · Internuclear ophthalmoplegia · One and a half syndrome
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Refraction
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Refractive error: Hyperopia/Myopia · Astigmatism · Anisometropia/Aniseikonia · Presbyopia
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Visual disturbances
and blindness
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Amblyopia · Leber's congenital amaurosis · Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) · Diplopia · Scotoma · Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) · Color blindness (Achromatopsia, Dichromacy, Monochromacy) · Nyctalopia (Oguchi disease) · Blindness/Low vision
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Pupil
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Anisocoria · Argyll Robertson pupil · Marcus Gunn pupil · Adie syndrome · Miosis · Mydriasis · Cycloplegia · Parinaud's syndrome
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Other
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Nystagmus
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| Eye infections |
Trachoma · Onchocerciasis
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anat(g/a/p)/phys/devp/prot
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Congenital malformations and deformations of eyes (Q10–Q15, 743)
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| Adnexa |
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Eyelid
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- Ptosis
- Ectropion
- Entropion
- Distichia
- Blepharophimosis
- Ablepharon
- Marcus Gunn phenomenon
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Lacrimal apparatus
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- Congenital lacrimal duct obstruction
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| Globe |
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Entire eye
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- Anophthalmia (Cystic eyeball, Cryptophthalmos)
- Microphthalmia
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Lens
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Iris
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Anterior segment
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Cornea
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- Keratoglobus
- Megalocornea
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Other
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- Buphthalmos
- Coloboma (Coloboma of optic nerve)
- Hydrophthalmos
- Norrie disease
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anat(g/a/p)/phys/devp/prot
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UpToDate Contents
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English Journal
- Long-term clinical outcome of femtosecond laser-assisted lamellar keratectomy with phototherapeutic keratectomy in anterior corneal stromal dystrophy.
- Lee J1, Kim JH1, Lee D1, Chang JW1, Shin JY1, Seo JW1, Seo MH1, Moon NJ2.
- The British journal of ophthalmology.Br J Ophthalmol.2018 Jan;102(1):31-36. doi: 10.1136/bjophthalmol-2017-310189. Epub 2017 Jun 13.
- PMID 28611133
- Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy.
- AlArrayedh H1, Collum L1, Murphy CC1,2.
- The British journal of ophthalmology.Br J Ophthalmol.2018 Jan;102(1):19-25. doi: 10.1136/bjophthalmol-2016-309565. Epub 2017 May 6.
- PMID 28478395
- Importance of Axial Length and Functional Corneal Endothelial Cells in Descemet Membrane Endothelial Keratoplasty.
- Borroni D1, Ferronato M, Krumina Z, Parekh M.
- Cornea.Cornea.2017 Dec;36(12):e35-e36. doi: 10.1097/ICO.0000000000001385.
- PMID 29045313
Japanese Journal
- 田中 春花,南部 裕之,城 信雄,二階堂 潤,西川 真生,加賀 郁子,安藤 彰,松村 美代,高橋 寛二
- 緑内障 : 日本緑内障学会雑誌 : journal of Japan Glaucoma Society 20(1), 134-137, 2010-12-27
- NAID 10027747890
- 田中 春花,南部 裕之,城 信雄 [他],二階堂 潤,西川 真生,加賀 郁子,安藤 彰,松村 美代,高橋 寛二
- あたらしい眼科 = Journal of the eye 27(11), 1577-1580, 2010-11-30
- NAID 10028246693
Related Links
- Page 1 THEI BRITISH JOURNAL OF OPHTHALMOLOGY FEBRUARY, 1944 COMMUNICATIONS HEREDITARY CORNEAL DYSTROPHY* BY J. R. MUTCH ABERDEEN HEREDITARY corneal dystrophy was first described by ...
- Congenital hereditary corneal dystrophy. Am J Ophthalmol. 1960 Dec;50:1114-24. PubMed ID: 13768390 Ramamurthy B, Sachdeva V, Mandal AK, Vemuganti GK, Garg P, Sangwan VS. Coexistent congenital hereditary . Br J ...
★リンクテーブル★
[★]
- 英
- hereditary 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
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited
[★]
- 関
- cornea
[★]
角膜ジストロフィー