Figure 2. Typical RP clinical
presentations of the two putative missense mutation (p.K1370E and
p.R1652L) carriers. They both appear to be less severe than the
truncation mutation carrier reported previously [
29].
A:
Electroretinogram (ERG) and automated visual field reports of the
p.K1370E carrier.
B: Fundus photographs and automated visual
field reports of the p.R1652L carrier, showing much milder clinical
manifestation in comparison to the carrier with p.S2RfxX16 and
p.P1648SfsX13 truncation mutations [
29]. Abbreviations: OD represents Right eye; OS
represents Left eye.