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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Withdrawn b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