IllnessGlaukom, adultes Weitwinkel-; Suszeptibilität

NGS + SNP

[Sanger]

Glaucoma occurs at all ages, early onset disease before 40 y with Mendelian inheritance; adult onset after age 40 inherited as complex traits; generally, mutations in genes causing early onset glaucoma are rare with large biological effects, while variants contributing to the adult-onset glaucomas are common with smaller effects.

Mutations in each of three genes, MYOC, OPTN and TBK1 may cause primary open-angle glaucoma as Mendelian trait. MYOC mutations cause 3–4% of POAG cases [>21 mmHg], while OPTN, TBK1 and MYOC mutations each cause ∼1% of POAG with IOP ≤21 mmHg [normal tension glaucoma].

• Allelic: Charcot-Marie-Tooth disease, axonal, types 2A2A + 2A2B (MFN2)
• Allelic: Encephalopathy, acute, herpes infection-induced, susceptibility to, 8 (TBK1)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
• Allelic: Hereditary motor + sensory neuropathy VIA (MFN2)
• Charcot-Marie-Tooth disease, type 4B2 (SBF2)
• Eye Disorders [panelapp] (MFN2)
• Glaucoma 1, open angle, 1O (NTF4)
• Glaucoma 1, open angle, E (OPTN)
• Glaucoma 1, open angle, F (ASB10)
• Glaucoma 1, open angle, G (WDR36)
• Glaucoma 1, open angle, P [MONDO] (TBK1)
• Glaucoma 1A, primary open angle (MYOC)
• Glaucoma 3, primary congenital, D (LTBP2)
• Glaucoma 3, primary congenital, E (TEK)
• Glaucoma, normal tension, susceptibility to (OPA1)
• Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)