Hornhinnedystrofi
En gruppe arvelige tilstander som rammer ett eller flere lag av hornhinnen, blant annet Fuchs endotelial dystrofi (ofte knyttet til en TCF4-repetisjonsekspansjon), TGFBI-relaterte granulær- og gitterdystrofi, og sjeldnere typer forårsaket av gener som SLC4A11, COL8A2, ZEB1 og CHST6.
Hva en diagnose endrer
Bærere av TGFBI-varianter får generelt råd om å unngå laserkirurgi for refraksjonsfeil (LASIK eller PRK), som kan forverre avleiringene. Hornhinnetransplantasjon kan gjenopprette synet ved avansert sykdom.
Analyserte gener
Også kjent som
Corneal dystrophies; corneal dystrophy (disease)
Inkluderer 57 beslektede undertyper ↓Skjul undertyper ↑
- autosomal dominant keratitis
- band keratopathy
- central cloudy dystrophy of François
- Chandler syndrome
- congenital hereditary endothelial dystrophy of cornea
- congenital hereditary endothelial dystrophy type I
- congenital stromal corneal dystrophy
- corneal dystrophy, Fuchs endothelial, 1
- corneal dystrophy, fuchs endothelial, 2
- corneal dystrophy, Fuchs endothelial, 3
- corneal dystrophy, Fuchs endothelial, 4
- corneal dystrophy, fuchs endothelial, 5
- corneal dystrophy, Fuchs endothelial, 6
- corneal dystrophy, fuchs endothelial, 7
- corneal dystrophy, Fuchs endothelial, 8
- corneal dystrophy, lattice type 3A
- corneal dystrophy, Meesmann, 1
- corneal dystrophy, Meesmann, 2
- corneal dystrophy, posterior polymorphous, 4
- corneal dystrophy, punctiform and polychromatic pre-descemet
- corneal endothelial dystrophy
- corneal granular dystrophy
- corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- epithelial and subepithelial corneal dystrophy
- epithelial basement membrane dystrophy
- epithelial recurrent erosion dystrophy
- epithelial-stromal TGFBI dystrophy
- Finnish type amyloidosis
- fleck corneal dystrophy
- Fuchs' endothelial dystrophy
- gelatinous drop-like corneal dystrophy
- granular corneal dystrophy type I
- granular corneal dystrophy type II
- Grayson-Wilbrandt corneal dystrophy
- hereditary benign intraepithelial dyskeratosis
- honey-droplet corneal dystrophy
- Judge Misch wright syndrome
- lattice corneal dystrophy
- lattice corneal dystrophy type I
- Lisch epithelial corneal dystrophy
- macular corneal dystrophy
- macular dystrophy, fenestrated sheen type
- Meesmann corneal dystrophy
- posterior amorphous corneal dystrophy
- posterior corneal dystrophy
- posterior polymorphous corneal dystrophy
- posterior polymorphous corneal dystrophy 1
- posterior polymorphous corneal dystrophy 2
- posterior polymorphous corneal dystrophy 3
- pre-descemet corneal dystrophy
- Reis-Bucklers corneal dystrophy
- Schnyder corneal dystrophy
- stromal corneal dystrophy
- subepithelial mucinous corneal dystrophy
- superficial corneal dystrophy
- Thiel-Behnke corneal dystrophy
- X-linked endothelial corneal dystrophy
