Klinische FragestellungHornhaut-Dystrophie, stromale, kongenitale; Differentialdiagnose

NGS +

• Alias: Congenital hereditary stromal dystrophy of the cornea
• Alias: Congenital stromal dystrophy of the cornea
• Alias: Corneal dystrophy, congenital stromal
• Alias: Decorin-associated congenital stromal corneal dystrophy
• Alias: Dystrophia corneae parenchymatosa congenita
• Alias: Witschel-Dystrophie
• Allelic: Epidermolysis bullosa, junctional 4, intermediate (COL17A1)
• Allelic: Pitt-Hopkins syndrome (TCF4)
• Amyloidosis, Finnish type (GSN)
• Aniridia (PAX6)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 4 (PITX2)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 6, multiple subtypes (CYP1B1)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Brittle cornea syndrome 1 (ZNF9230)
• Brittle cornea syndrome 2 (PRDM5)
• Cataract 11, multiple types (PITX3)
• Cataract 11, syndromic, AR (PITX3)
• Cataract 34, multiple types (FOXE3)
• Cataract with late-onset corneal dystrophy (PAX6)
• Coloboma of optic nerve (PAX6)
• Coloboma, ocular (PAX6)
• Cornea plana 2, AR (KERA)
• Corneal dystrophy, Avellino type (TGFBI)
• Corneal dystrophy, Fuchs endothelial, 1 (COL8A2)
• Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
• Corneal dystrophy, Fuchs endothelial, 6 (ZEB1)
• Corneal dystrophy, Groenouw type I (TGFBI)
• Corneal dystrophy, Reis-Bucklers type (TGFBI)
• Corneal dystrophy, Schnyder type (UBIAD1)
• Corneal dystrophy, Thiel-Behnke type (TGFBI)
• Corneal dystrophy, congenital stromal (DCN)
• Corneal dystrophy, epithelial basement membrane (TGFBI)
• Corneal dystrophy, gelatinous drop-like (TACSTD2)
• Corneal dystrophy, lattice type I (TGFBI)
• Corneal dystrophy, lattice type IIIA (TGFBI)
• Corneal dystrophy, posterior polymorphous, 1 (OVOL2)
• Corneal dystrophy, posterior polymorphous, 2 (COL8A2)
• Corneal dystrophy, posterior polymorphous, 3 (ZEB1)
• Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
• Corneal endothelial dystrophy + perceptive deafness (SLC4A11)
• Corneal endothelial dystrophy, AR (SLC4A11)
• Corneal fleck dystrophy (PIKFYVE)
• Epithelial recurrent erosion dystrophy (COL17A1)
• Exudative vitreoretinopathy 2, XL (NDP)
• Fish-eye disease (LCAT)
• Foveal hypoplasia 1 (PAX6)
• Glaucoma 3, primary congenital, D (LTBP2)
• Glaucoma 3, primary congenital, E (TEK)
• Glaucoma 3A, primary open angle, congenital, juvenile or adult onset (CYP1B1)
• Ichthyosis, XL (STS)
• Keratitis (PAX6)
• Linear skin defects with multiple congenital anomalies 1 (HCCS)
• Macular corneal dystrophy (CHST6)
• Meesmann corneal dystrophy 1 (KRT12)
• Meesmann corneal dystrophy 2 (KRT3)
• Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
• Morning glory disc anomaly (PAX6)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
• Mucopolysaccharidosis type VI [Maroteaux-Lamy] (ARSB)
• Norrie disease (NDP)
• Norum disease (LCAT)
• Optic nerve hypoplasia (PAX6)
• Ring dermoid of cornea (PITX2)