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Table 2 Clinical findings in 8 patients

From: Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

Sings and symptoms

P01

P02

P03

P04

P05

P06

P07

P08

Gender

male

male

female

female

male

female

male

female

Age (year)

12

28

34

36

47

42

42

47

Nyctalopia time

First decade

First decade

First decade

First decade

First decade

First decade

First decade

First decade

Course of disease (year)

5

25

30

30

40

35

35

40

BCVA (logMAR) OD

0.4

0.1

0.5

0.2

HM

1/35 at 1 m

0.4

HM

BCVA (logMAR) OS

0.5

0.1

0.5

0.3

HM

0.4

0.4

HM

bone-spicule pigmentation

+

+

+

+

+

+

ERM

+

+

+

+

+

+

CME

+

Macular atrophy

+

+

+

+

+

PSAWM

+

Lamellar macular hole

+

CST (um) OD

296

224

169

229

419

138

181

NA

CST (um) OS

NA

229

366

215

193

134

221

NA

  1. Abbreviations: - = feature not present, + = feature present, OD Right eye, OS Left eye, CME Cystoid macular edema, ERM Epiretinal membrane, PSAWM Posterior staphyloma associated with myopia, CST Central subfield thickness; BCVA (at present age)