Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

Figure 5

Results of focal macular ERGs and multifocal ERGs. Focal macular ERGs recorded from normal control (a), Case II-2 (b, c), and Case III-2 (d, e) are shown. The amplitudes of the a-wave and b-wave of Case II-2 are severely reduced. Topographic map (f–j) and local responses (k–o) of multifocal ERGs recorded from normal control (f, k), Case II-2 (g, h, l, and m), and Case III-2 (i, j, n, and o) are shown. The amplitudes of the foveal area are severely reduced in Case II-2. The results from right eyes (b, d, g, i, l, and n) and left eyes (a, c, e, f, h, j, k, m, and o) are shown. The amplitudes of the focal macular ERGs and mfERGs in proband’s daughter (III-2) were within normal limits (Figures 5(d), 5(e), 5(i), 5(j), 5(n), and 5(o)).

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