ErkrankungKatarakt mit anderen Augenfehlbildungen, Differentialdiagnose

NGS +

[Sanger]

Gruppe von heterogenen Erkrankungen

• Cataract pulverulent or cerulean with/-out microcornea
• Peter's anomaly, microphthalmia, included
• Peters anomaly, included
• Alias: Cataract combined with other eye anomalies
• Alias: Cataract-microcornea syndrome, included
• Allelic: 3-methylglutaconic aciduria, type III (OPA3)
• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Ayme-Gripp syndrome (MAF)
• Allelic: Cataract 11, multiple types (PTX3)
• Allelic: Cataract 11, syndromic, AR (PTX3)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Keratitis (PAX6)
• Allelic: Microphthalmia, isolated 2 (VSX2)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Norum disease (LCAT)
• Allelic: Optic nerve hypoplasia (PAX6)
• Anterior segment dysgenesis 1, multiple subtypes (PTX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Cataract 1, multiple types (GJA8)
• Cataract 17, multiple types (CRYBB1)
• Cataract 2, multiple types (CRYGC)
• Cataract 21, multiple types (MAF)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 34, multiple types (FOXE3)
• Cataract 4, multiple types (CRYGD)
• Cataract 48 (DNMBP)
• Cataract 9, multiple types (CRYAA)
• Fish-eye disease (LCAT)
• Knobloch syndrome, type 1 (COL18A1)
• Microphthalmia with coloboma 3 (VSX2)
• Microphthalmia, syndromic 2 (BCOR)
• Myopia, high, with cataract and vitreoretinal degeneration (P3H2)
• Optic atrophy 3 with cataract (OPA3)
• Peters-plus syndrome (B3GLCT)