Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity

Figure 4

Visual field in the index case and her father. (a) Goldmann perimetry in index patient 2837.01 could be obtained mostly from fixation saccades and was concentrically reduced for all targets (I/4, III/4 ca. 20 to 40° radius, and V/4). (b) Her father had only slightly reduced isopters, even in reevaluation a year later (Figure 4(b), max. 73° temporal extend for III/4). (c) MP1 with white Goldmann III target from index patient 2837.01: her sensitivity in mesopic conditions was decreased by 17 dB (foveal normal value 27 dB). (d) MP1 as in (c) but from father 2837.03: his sensitivity was higher than the operating range of the MP1 (20 dB, “ceiling effect”). Method detailed in [9]. (e) Same as (d) but with a dimmer, red Goldmann III stimulus: central sensitivity reached 4 dB which is 11 dB below normal. No central relative scotoma was present. Method detailed in [9]. (f) MP1 from father with a dimmer (scotopic) background: Background and stimulus were blue and detection hence favoured rods. The stimulus was detected only just at those 5 positions marked with filled squares. Control patients yielded 11 dB, i.e., they are about 11 dB more sensitive in the dark [10].

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