Skip to main content

Table 4 ERG values of Spanish families with RP1 mutations

From: Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

  

RODS

MIXED (ROD-CONES)

CONOS

30 Hz Flicker

INDIVIDUAL

EYE

b-wave AMPL.

b-wave IMP.T

a-wave AMPL

a-wave IMP.T.

b-wave AMPL.

b-wave IMP.T

b-wave AMP.

b-wave IMP.T

b-wave AMPL

b-wave IMP.T

Q686X

           

I-1

R

ND

ND

ND

ND

ND

ND

50

36

NV

NV

 

L

ND

ND

ND

ND

ND

ND

30

37

NV

NV

II-1

R

260

109

378

23

874

49

218

30

131

29

 

L

230

105

363

23

833

48

238

31

144

29

II-6

R

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

 

L

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

III-6

R

110

93

158

22

389

44

142

31

97

27

 

L

157

108

213

22

441

44

140

31

65

25

III-7

R

116

99

197

22

491

45

154

30

68

27

 

L

137

94

170

22

412

45

NV

NV

NV

NV

K705fsX712

           

II-1

R

ND

ND

39

24

267

49

85

34

38

32

 

L

ND

ND

51

26

246

52

76

35

63

33

III-1

R

-

-

-

-

-

-

-

-

-

-

 

L

-

-

-

-

-

-

-

-

-

-

III-3

R

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

 

L

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

III-4

R

177

93

198

21

492

51

198

29

148

27

 

L

187

93

199

21

527

49

230

30

122

27

III-5

R

186

104

221

22

556

47

166

30

58

28

 

L

209

109

219

21

500

47

168

30

75

28

III-6

R

-

-

-

-

-

-

-

-

-

-

 

L

-

-

-

-

-

-

-

-

-

-

III-11

R

165

103

274

22

500

46

101

32

77

30

 

L

169

106

299

23

563

46

104

31

83

29

III-12

R

-

-

-

-

-

-

-

-

-

-

 

L

-

-

-

-

-

-

-

-

-

-

III-14

R

170

100

266

21

705

49

207

29

127

29

 

L

166

103

195

21

570

48

204

29

100

29

IV-1

R

106

86

150

21

393

45

152

29

64

26

 

L

138

91

191

21

491

46

193

29

80

27

K722fsX737

           

I-1

R

-

-

-

-

-

-

-

-

-

-

 

L

-

-

-

-

-

-

-

-

-

-

II-2, II-3, II-4

R

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

 

L

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

  1. ND : Not detectable; NV : Not valid; -:Not done or not available