Skip to main content

Table 2 Clinical characteristics of the 20 patients identified in this study

From: Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Patients

Age (years) /sex

BCVA LogMAR

R/L

Refraction

R/L

Age at disease presentation (years)

ERG

Fundus

Others

Diagnosis

F1-1

12/F

0/0.05

 + 0.5/ + 0.75

Congenital

Undetectable rod ERG, subnormal cone ERG

a

No

FAP

F2-1

6/M

0.60/0.82

− 0.5/− 2.0

Congenital

Extinct

a, b

Nystagmus

LCA 2

F3-1

7/M

0.40/0.40

− 4.0/− 3.75

Congenital

Extinct

N

Nystagmus

LCA 2

F4-1

15/M

0.52/0.52

− 3.5/− 3.0

Congenital

Extinct

a, b

Nystagmus

LCA 2

F4-2

3/F

1.00/1.00

 + 0.5/ + 0.75

Congenital

Extinct

N

Nystagmus

LCA 2

F5-1

9/F

1.30/0.70

 + 4.5/ + 4.5

Congenital

Extinct

a

Nystagmus

LCA 2

F6-1

10/M

0.22/0.40

− / + 0.5

3

Profoundly attenuated rod and cone ERGs

N

No

RP 20

F6-2

9/F

0.40/0.40

− / + 0.25

3

Profoundly attenuated rod and cone ERGs

a

No

RP 20

F7-1

29/M

1.00/3.00

Congenital

Extinct

b

Nystagmus

LCA 2

F7-2

31/M

1.3/1.3

Congenital

Extinct

b

Nystagmus

LCA 2

F8-1

7/F

1.00/0.13

 + 1.5/ + 2.25

Congenital

Extinct

a

Nystagmus

LCA 2

F9-1

11/M

0.52/0.40

− 0.5/− 0.5

Congenital

Profoundly attenuated rod and cone ERGs

a

No

RP 20

F10-1

49/F

3.00/3.00

Congenital

Extinct

b

Nystagmus

LCA 2

F11-1

20/M

1.00/1.00

− 2.25/− 1.75

Congenital

Profoundly attenuated rod and cone ERGs

N

Nystagmus

LCA 2

F12-1

31/F

1.00/1.00

− 1.0/− 1.25

Congenital

Extinct

b

Nystagmus

LCA 2

F13-1

9/F

0.52/0.40

 + 2.5/ + 2.25

Congenital

Extinct

N

Nystagmus, oculo-digital sign

LCA 2

F14-1

5/F

0.60/0.70

 + 2.25/ + 3.0

Congenital

Extinct

N

Nystagmus, esotropia

LCA 2

F15-1

5/M

0.82/1.00

 + 2.0/ + 2.25

Congenital

Extinct

N

Nystagmus

LCA 2

F16-1

30/M

2.00/2.00

− /−

Congenital

Extinct

N

Nystagmus

LCA 2

F17-1

30/F

0.30/0.40

-4.0/-4.5

Congenital

Profoundly attenuated rod and cone ERGs

N

No

RP 20

  1. F: family; R: right; L: left; LP = 3 LogMAR; HM = 2 LogMAR; a. white or white-yellow dots; b. Bone-spicule-like pigment; deposits; N: no a or b; LCA: Leber congenital amaurosis; RP: retinitis pigmentosa; FAP: fundus albipunctatus