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Table 2 Genetics and active tumours of the patients along the clinical trial

From: Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease

      First visit Last visit (12 months later)
Patient Age Gender Gene VHL locus Mutation Left eye Right eye
Tumours Exudation Tumours Exudation Tumours a Exudation
1 36 M Intron 2 Splice g. 8665, A > G; c.DNA 463,+2A > C 1 peripheral - 1 peripheral Great exudation No changes No exudation
2 33 F Intron 2 Splice.g.8665, A > G; c.DNA 463,+2A > C 1 juxtapapillary - - - No changes -
3 50 F Exon 3 c.501 A > T 1 juxtapapillary Exudation - - No changes Much less exudation
4 20 M Exon 3 c.501 A > T 1 juxtapapillary - - - No changes -
5 15 M Ex1–2-3 del complete VHL - - 1 peripheral - No changes -
6 38 F Exon 1 del exon 1 1 juxtapapillary - - - Withdrawn b -
7 22 M Exon 3 c.486, C > G 2 peripheral - 2 peripheral   No changes -
  1. This table exclusively presents active tumours in the initial or final evaluation, which were the principal objective of treatment
  2. a“No changes” indicates no more tumours, or growth of previous tumours
  3. bWithdrawn from the clinical trial due to a scheduled surgery
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172