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Hajjaj A, van Overdam KA, Oldenburg RA, et al. Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome. Acta Ophthalmol. 2020;doi: 10.1111/aos.14360.
Hajjaj, A., van Overdam, K. A., Oldenburg, R. A., Koopmans, A. E., van den Ouweland, A. M. W., de Klein, A., & Kiliç, E. (2020). Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome. Acta ophthalmologica, . https://doi.org/10.1111/aos.14360
Hajjaj, Anass, et al. "Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome." Acta ophthalmologica vol. (2020). doi: https://doi.org/10.1111/aos.14360
Hajjaj A, van Overdam KA, Oldenburg RA, Koopmans AE, van den Ouweland AMW, de Klein A, Kiliç E. Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome. Acta Ophthalmol. 2020 Jan 30; doi: 10.1111/aos.14360. Epub 2020 Jan 30. PMID: 32003155; PMCID: PMC7496349.
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Acta Ophthalmol. 2020 Jan 30; doi: 10.1111/aos.14360. Epub 2020 Jan 30.

Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Acta ophthalmologica

Anass Hajjaj, Koen A van Overdam, Rogier A Oldenburg, Anna E Koopmans, Ans M W van den Ouweland, Annelies de Klein, Emine Kiliç

Affiliations

  1. Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, the Netherlands.
  2. Department of Vitreoretinal Surgery, The Rotterdam Eye Hospital, Rotterdam, the Netherlands.
  3. Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.

PMID: 32003155 PMCID: PMC7496349 DOI: 10.1111/aos.14360

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.

© 2020 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.

Keywords: Lindau; benign tumours; clinical genetics; haemangioblastoma; retina; von Hippel - Lindau

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