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https://www.selleckchem.com/products/ki16198.html At the 24-month follow-up, the cumulative proportions of trabeculotomy success in the SEVAN and MEVAN groups were 89.7% and 36.0%, respectively. Patients with MEVAN and larger preoperative corneal diameter (per 0.5 mm) were more likely to experience failed trabeculotomy (hazards ratio [HR], 7.997 [95% CI, 1.640-38.996], p = 0.010; 1.853 [95% CI, 1.128-3.042], p = 0.015). CONCLUSION Hemangiomas exhibited different distribution patterns between SEVAN and MEVAN. Trabeculotomy had a poorer prognosis in young SWS patients with MEVAN than in those with SEVAN. In addition to anterior chamber angle anomalies, vascular factors may contribute to the aetiology of SWS early-onset glaucoma. © 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.PURPOSE Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers. METHODS Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and RH. Clinical and genetic data were obtained to analyse the correlation of genotype with phenotype and treatment outcomes. RESULTS All patients were categorized in two genotypic categories missense mutations (MM) and truncating mutations (TM). Mean follow-up duration was 16.3 years and did not differ significantly between mutation groups (p = 0.383). Missense mutations (MM) carriers (n = 6) developed more progression-related complications compared to TM carriers (n = 15) (p = 0.046). Vitreoretinal surgery was more often applied in MM carriers (p = 0.036). Moderate (visual acuity (VA)20/80 to 20/200) to severe (VA less then 20/200) visual impairment was observed in 53.3% of the eyes of MM carriers and 28.1% of the eyes of TM carriers at last recorded visit. CONCLUSION Missense mutations in VHL patients seem to have a higher prevalence of progression-related

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