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Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome
Author(s) -
Hajjaj Anass,
Overdam Koen A.,
Oldenburg Rogier A.,
Koopmans Anna E.,
Ouweland Ans M. W.,
Klein Annelies,
Kiliç Emine
Publication year - 2020
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.14360
Subject(s) - missense mutation , von hippel–lindau disease , germline mutation , medicine , genotype , germline , mutation , oncology , genetics , disease , gastroenterology , biology , gene
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.