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Br J Ophthalmol 87:1130-1134 doi:10.1136/bjo.87.9.1130
  • Clinical science
    • Extended reports

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families

Table 3

Electrophysiological data of XLRS1 families

Scotopic (white flash) 30 Hz flicker
Pedigree Subject Mutation Age (years) Scotopic (blue flash) b-wave (μV) Photopic b-wave (μV) b-wave (μV) a-wave (μV) b/a ratio Amplitude (μV) Implicit time (ms)
*Mean values (2 SD) in controls.
70 70 Trp112Cys 9 45,8 23 77 55 1.4 10.5 26
- 71 Trp112Cys 27 extinguished extinguished 142 187 0.8 43.7 27
- 72 Trp112Cys 26 extinguished 26 65 102 0.6 17.7 38
- 73 Trp112Cys 28 extinguished 90 182 219 0.8 37.5 33
140 140 Trp112Cys 24 extinguished extinguished 36 46 0.8 11.1 43
- 141 Trp112Cys 20 71,5 extinguished 67 50 1.3 35.9 33
80 80 Gly178Asp 32 58,2 66 238 261 0.9 - -
- 81 Gly178Asp 28 106 79 279 288 0.9 44.3 30
- 82 Gly178Asp 20 28,7 73 160 186 0.9 39.2 34
93 94 Glu72Lys 10 112 71 223 195 1.1 extinguished -
180 180 Glu72Lys 19 97,5 105 205 232 0.9 57.9 27
379 (104)* 210 (86)* 377 (113)* 238 (84)* 1.7 (0.6)* 90 (56)* >24 <27*

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