ErkrankungEctopia-lentis-[et-pupillae-]Syndrom, incl. minimaler Linsen-/Pupillenveränderungen

NGS +

• Ectopia lentis et pupillae (ADAMTSL4)
• Ectopia lentis, isolated, AR (ADAMTSL4)
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Glaucoma 3, primary congenital, D (LTBP2)
• Allelic: MASS syndrome (FBN1)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Thrombosis, hyperhomocysteinemic (CBS)
• 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)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Anterior segment dysgenesis 8 (CPAMD8)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• 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)
• Corneal dystrophy, Fuchs endothelial, 1 (COL8A2)
• Corneal dystrophy, Fuchs endothelial, 6 (ZEB1)
• Corneal dystrophy, posterior polymorphous 2 (COL8A2)
• Corneal dystrophy, posterior polymorphous, 1 (OVOL2)
• Corneal dystrophy, posterior polymorphous, 3 (ZEB1)
• Ectopia lentis, familial (FBBN1)
• Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset (CYP1B1)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Hyperlysinemia (AASS)
• Keratitis (PAX6)
• Marfan syndrome (FBN1)
• Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
• Ring dermoid of cornea (PITX2)
• Sulfite oxidase deficiency (SUOX)
• Weill-Marchesani syndrome 1, AR (ADAMTS10)
• Weill-Marchesani syndrome 2, AD (FBN1)
• Weill-Marchesani syndrome 3, AR (LTBP2)
• Weill-Marchesani syndrome 4, AR (ADAMTA17)