Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome. Issue 5 (30th January 2020)

• Record Type: Journal Article
• Authors: Hajjaj, Anass; van Overdam, Koen A.; Oldenburg, Rogier A.; Koopmans, Anna E.; van den Ouweland, Ans M. W.; de Klein, Annelies; Kiliç, Emine
• Is Part Of: Acta ophthalmologica. Volume 98:Issue 5(2020)
• Page Start: 464
• Page End: 471
• Publication Date: 2020-01-30
• Subjects: benign tumours -- clinical genetics -- haemangioblastoma -- retina -- von Hippel – Lindau -- Lindau; Ophthalmology -- Periodicals; 617.7005
• DOI: 10.1111/aos.14360
• Languages: English
• ISSNs: 1755-375X

Abstract

Abstract: 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 < 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 complications. Missense mutations (MM) carriers required therefore more often vitreoretinal surgical treatment with a worse treatment outcome. Genetic analysis may play a role in determining a pro‐active treatment strategy and prognosis for RH.