Table 1 The clinical information of the five patients

From: Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population

 

Age of onset

Gender

Diagnosis

Inheritance pattern

Family history

VA

Symptom

ERG

19114

30

M

RP

S

NO

0.8/0.5

Night blindness, pigmentation

Extinct

19162

13

M

RP

S

NO

0.1/0.3

Night blindness, pigmentation, macular convex reflective

Extinct

19123

7

M

RP

S

NO

0.5/0.8

Night blindness, pigmentation, retina gray

Extinct

19178

42

M

RP

S

Grandfather, brother, sister

0.01/0.1

Night blindness, pigmentation, optic yellow, RPE layer atrophy

Extinct

19124

42

F

Ush-2

S-USH

NO

0.8/0.7

Night blindness, hearing loss, pigmentation, peripheral retinal filth, 100Tube video

Extinct