Skip to main content

Table 3 clinical features of probands

From: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

 

Family A(III:4)

Family B(II:1)

SEX

M

M

Age(year)

4

29

Age at onset(year)

0

1

Nystagmus direction

Horizontally

Horizontally

Best corrected visual acuity at presentation(L/R)

0.3/0.3

0.3/0.2

Nystagmus features

no obvious fast or slow phase

no obvious fast or slow phase

strabismus

N

External strabismus

photophobia

N

N

color blindness

N

N

Night blindness

N

N

Astigmatism

N

N

Compensatory head position

Y

Y

Increased nystagmus when gazing

Y

Y

Reduced nystagmus when closing eyes

N

No autonomous feeling

albinism

N

N