Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
Figure 4
Right eye flash electroretinograms (ERGs) in patients I:1 (b), II:1 (c), II:3 (d), III:1 (e), and III:4 (f), carrying the mutation p.L84F, in comparison with ERG of a representative control subject (a). Dark-adapted ERGs are shown for flash intensities of 0.01 and 3.0 cd·s/m2; light-adapted ERGs and 30 Hz flicker ERGs are shown for a flash intensity of 3.0 cd·s/m2. The electrophysiological findings are consistent with cone-rod dystrophy with absent photopic response and decreased scotopic response in subject I:1 (b) or cone dystrophy showing photopic ERG with decreased photopic amplitudes in patients II:1, III:1, and III:4 ((c), (e), and (f)). Despite the progressive loss of visual acuity observed in individual II:3, photopic ERG shows normal amplitudes (d). Implicit time of the scotopic response was normal whereas delayed photopic responses were observed in all patients.
