Klinische FragestellungGlaukom, infantiles; Differentialdiagnose

NGS +

[Sanger]

Das Glaukom ist eine heterogene Gruppe von Krankheiten, die den Sehnerv irreversibel schädigen, zum Verlust der Sehkraft und wenn unbehandelt, zur Erblindung führen; genetische Faktoren spielen bei allen wichtigen Formen des Glaukoms eine Schlüsselrolle.

• Allelic: Autoimmune disease, susceptibility to, 1 (FOXD3)
• Allelic: Venous malformations, multiple cutaneous + mucosal (TEK)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Allelic: Amyotrophic lateral sclerosis 12 with/-out frontotemporal dementia (OPTN)
• Allelic: Cataract 11, multiple types (PITX3)
• Allelic: Cataract 11, syndromic, AR (PITX3)
• Allelic: Cataract 40, XL (NHS)
• Allelic: Corneal dystrophy, Fuchs endothelial, 4 (SLC4A11)
• Allelic: Deafness, AD 23 (SIX1)
• Allelic: Encephalopathy, acute, infection-induced, herpes-specific, susceptibility to, 8 (TBK1)
• Allelic: Focal segmental glomerulosclerosis 10 (LMX1B)
• Allelic: Nail-patella syndrome (LMX1B)
• Allelic: Watson syndrome (NF1)
• 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 8 (CPAMD8)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Branchiootic syndrome 3 (SIX1)
• Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
• Charcot-Marie-Tooth disease, type 4B2 (SBF2)
• Corneal endothelial dystrophy + perceptive deafness (SLC4A1)
• Corneal endothelial dystrophy, AR (SLC4A11)
• Dent disease 2 (OCRL)
• Denys-Drash syndrome (WT1)
• Exfoliation syndrome, susceptibility to (LOXL1)
• Frank-ter Haar syndrome (SH3PXD2B)
• Frasier syndrome (WT1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
• Glaucoma 1, open angle, 1O (NTF4)
• Glaucoma 1, open angle, E (OPTN)
• Glaucoma 1, open angle, G (WDR36)
• Glaucoma 1A, primary open angle (MYOC)
• Glaucoma 3, primary congenital (LTBP2)
• Glaucoma 3, primary congenital, E (TEK)
• Glaucoma 3A, primary open angle, congenital/juvenile/adult onset (CYP1B1)
• Glaucoma, normal tension, susceptibility to (OPTN)
• Lipodystrophy, congenital generalized, type 3 (CAV1)
• Lowe syndrome (OCRL)
• Meacham syndrome (WT1)
• Menke-Hennekam syndrome 1 (CREBBP)
• Nance-Horan syndrome (NHS)
• Nephrotic syndrome, type 4 (WT1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Oculodentodigital dysplasia (GJA1)
• Oculodentodigital dysplasia, AR (GJA1)
• Peters-plus syndrome (B3GLCT)
• Pulmonary hypertension, primary, 3 (CAV1)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Singleton-Merten syndrome 1 (IFIH1)
• Singleton-Merten syndrome 2 (DDX58)
• Spinocerebellar ataxia 38 (ELOVL5)
• Sturge-Weber syndrome, somatic, mosaic (GNAQ)
• Weill-Marchesani syndrome 1, AR (ADAMTS10)
• Weill-Marchesani syndrome 4, AR (ADAMTS17)