PMC4322316_01
Pedigree of a family with cone dystrophy. Affected patient is shown with a solid symbol and unaffected with open symbols. Numbers in the symbols are ages of the family member when they were clinically examined. Sequencing results of the variants of RP1L1, PCDH15, RPGRIP1, and GPR98 are shown below the symbols. Squares, male; circles, female; slashed symbols, deceased; +, wild type; NE, not examined.
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fig1
Family history revealed no other members with any eye disease including her parents who were deceased (Figure 1).
Clinical findings of the proband, Patient II-2. Fundus photographs (a, b) and fluorescein angiograms (c, d) show no abnormal findings. The results of the Humphrey Visual Field Analyzer show a relative reduction of the central sensitivity in both eyes (e-h).
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Fundus examinations were normal (Figures 2(a) and 2(b)). The findings of fluorescein angiography were normal (Figures 2(c) and 2(d)). The visual fields were full by Goldman perimetry, and a relative reduction of the central sensitivity was detected in both eyes by the Humphrey Visual Field Analyzer (Figures 2(e)-2(h)).
Spectral-domain optical coherence tomographic (SD-OCT) images. Images of normal control (a, b) and of family members (c-l). Images at lower magnification (a, c, e, g, i, and k) and higher magnification (b, d, f, h, j, and l) are shown. SD-OCT images from the right eye of a normal control (a, b), Case II-1 (c, d), Case II-2 (e, f), Case III-2 (g, h), Case IV-1 (i, j), and Case IV-2 (k, l) are shown. The SD-OCT findings of the eyes in Case II-2 show blurred ellipsoid and discontinuous interdigitation zones (e, f). Family member of the case showed clearly distinguishable ellipsoid and interdigitation zones in the central macular area.
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The SD-OCT images showed blurred ellipsoid and discontinuous interdigitation zones at the fovea (Figures 3(e) and 3(f)).
Full-field electroretinograms (ERGs). Full-field ERGs recorded from Case II-2 are shown. The dark-adapted 0.01, dark-adapted 3.0, light-adapted 3.0, and light-adapted 3.0 flicker ERGs are shown. The results of dark-adapted 0.01 and dark-adapted 3.0 ERGs show a slight reduction of the b-wave amplitudes of the right eye although the amplitudes are within normal limit of our institutional age-matched standard. The amplitudes of the b-wave of light-adapted 3.0 and light-adapted 3.0 flicker responses are markedly reduced in both eyes.
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fig4
The a- and b-wave amplitudes of dark-adapted 0.01 and 3.0 full-field ERGs were mildly reduced in the right eye, but the amplitudes of both eyes were within the normal limits of our institutional age-matched controls (Figure 4). The amplitudes of the b-wave of the cone ERGs and the amplitude of the flicker responses were markedly reduced in both eyes (Figure 4).
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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fig5
The amplitudes of the a- and b-waves of the focal macular ERGs were severely reduced (Figures 5(b) and 5(c)), and the amplitudes of the mfERGs in the central area were also severely reduced (Figures 5(g), 5(h), 5(l), and 5(m)).