Table 1 The information and examinations of the family

II-2

55

F

no

1.0/1.0

16/16

normal

normal

normal

II-3

50

M

early nyctalopia, progressive visual impairment, color vision defects, decreased sensitivity in the central visual field, followed by peripheral vision

Fc/30 cm/Fc/20 cm

12/15

bone spicule pigmentation

hypofluorescent lesion at the perifoveal region

atrophy in the outer retinal layer

II-4

47

F

no

0.8/0.6

17/17

normal

normal

normal

III-1

32

M

early nyctalopia, progressive visual impairment, color vision defects, decreased sensitivity in the central visual field, followed by peripheral vision

0.07/0.25

11/12

bone spicule pigmentation

hypofluorescent lesion at the perifoveal region

atrophy in the outer retinal layer

III-2

19

M

early nyctalopia, progressive visual impairment, color vision defects, decreased sensitivity in the central visual field, followed by peripheral vision

0.04/0.04

17/16

bone spicule pigmentation

hypofluorescent lesion at the perifoveal region

atrophy in the outer retinal layer

III-5

23

M

early nyctalopia, progressive visual impairment, color vision defects, decreased sensitivity in the central visual field, followed by peripheral vision

0.25/0.3

15/18

bone spicule pigmentation

hypofluorescent lesion at the perifoveal region

atrophy in the outer retinal layer