Table 1 Summary of general information and phenotype characteristics of affected individuals from 4 FEVR families

Family 1

II2:

F

9y

0. 1

0. 4

2

2

OU: Dilated blood vessels; fluorescein leakage

I2:

F

42y

1. 0

1. 0

2

2

OU: no perfusion area; increased vascular branches; stained vascular wall

Family 2

II1:

M

17y

1. 0

0. 6

2

3

OD: fluorescein leakage; no perfusion area

OS: postoperative of RD

I2:

F

45y

0. 8

0. 8

2

2

OU: no perfusion area; increased vascular branches

Family 3

II2:

M

7y

0. 2

FC/BE

2

3

OD:paraoptic disc and temporal retinal atrophy, fluorescein leakage

OS: RD and retinal fold

I1:

M

43y

1. 0

1. 0

2

2

OU: no perfusion area; increased vascular branches; stained vascular wall

Family 4

II2:

M

16y

0. 5

0. 7

3

2

OD: RD and fluorescein leakage

OS: no perfusion area; increased vascular branches; fluorescein leakage

I2:

F

43y

1. 0

1. 0

2

2

OU: no perfusion area; increased vascular branches; fluorescein leakage