Table 1 Demographic and clinical characteristics of 15 patients from 14 families with retinitis pigmentosa associated with PDE6B variants; visual and retinal parameters were assessed at the time of genetic testing.

From: Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients

Family no.

Subject no.

Age, years

Sex

Follow-up duration, years

BCVA, LogMAR

First symptom

Age at diagnosis, years

Family history

Visual field

OCT parameters

OD

OS

Age at onset, years

Chief complaint

IS/OS, μm

CRT, μm

ONLT, μm

ERM

CME

1

1-III-1

14

M

3

0.00

0.00

7

Night blindness

11

No

PRS

3654

253

70

No

Yes

2

2-III-2

26

F

2

0.40

0.15

10

Dyschromatopsia

11

No

PRS

2420

248

90

Yes

Yes

3

3-III-1

13

F

1

0.40

0.20

4

Decreased VA

12

No

Center < 20°

1719

306

94

No

Yes

4

4-II-3

67

M

2

3.00

0.50

10

Night blindness

20

Yes

TVFD (OD)

473

315

21

Yes

Noa

           

PP (OS)

     

5

5-III-1

17

F

1

0.15

0.00

15

Night blindness

16

Yes

center < 30°

4658

261

97

No

No

5

5-III-2

15

M

1

0.10

0.10

14

Night blindness

14

Yes

center < 30°

3889

273

89

No

No

6

6-II-3

40

F

4

0.00

0.00

30

Night blindness

40

No

N/A

2644

271

62

No

No

7

7-II-5

55

M

1

0.40

0.40

47

Night blindness

55

No

PRS

1495

235

62

Yes

Yes

8

8-II-2

33

F

1

0.00

0.40

14

Night blindness

33

Yes

PRS

4046

284

72

No

Yes

9

9-II-3

62

M

1

3.00

0.50

10

Night blindness

20

Yes

TVFD (OD)

328

195

N/A

Yes

Noa

           

PP (OS)

     

10

10-II-3

50

M

3

3.00

3.00

5

Night blindness

24

No

PP

394

217

N/A

Yes

Noa

11

11-II-5

38

M

6

0.40

0.40

10

Night blindness

21

Yes

Center < 15°

1401

230

31

Yes

Yes

12

12-II-1

44

F

12

0.40

1.00

7

Night blindness

31

No

Center < 10°

812

189

38

Yes

No

13

13-II-5

67

F

6

0.10

0.10

42

Night blindness

60

No

Center < 10°

4715

252

56

Yes

No

14

14-II-5

56

F

2

1.30

0.40

6

Night blindness

44

No

PP

803

257

35

No

Yesa

Median

 

40.0

 

2.0

0.40

0.40

10.0

 

21.0

  

1719.0

253.0

62.0

  

Mean

 

39.8

 

3.1

0.84

0.48

15.4

 

27.5

  

2230.1

252.4

62.2

  
  1. BCVA best-corrected visual acuity; LogMAR logarithm of the minimum angle of resolution; OCT optical coherence tomography; IS/OS width of the inner segment/outer segment band; CRT central retinal thickness; ONLT outer nuclear layer thickness; ERM epiretinal membrane; CME cystoid macular edema; PRS paracentral ring scotoma; TVFD total visual field defect; PP pinpoint visual field; N/A not available; VA visual acuity; OD oculus dexter; OS oculus sinister.
  2. aThe patients who were excluded from calculating the incidence of cystoid macular edema due to diffuse foveal atrophy accompanied by residual visual field less than five degree.