PMC5893010_01
Fundus images of patient JU#1085 (left column: images of the right eye, right column: images of the left eye). A: Late-phase fluorescein angiograms show hyperfluorescent rings surrounding central areas of hypofluorescence (20 years of age). Fundus (B and C) and red-free retinal (D) images show bull's eye maculopathy and numerous dense white dots/flecks occurring mainly outside the vascular arcades (23 years of age). E: Wide-field fundus autofluorescence images show overall low autofluorescent signals and hyper-autofluorescent rings within the arcades (23 years of age).
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Fluorescein angiograms showed hyperfluorescent rings (window defect) surrounding central areas of hypofluorescence in both maculae at age 20 (Figure 1A). Funduscopy showed bull's eye maculopathy, and numerous dense white dots/flecks occurring mainly outside the vascular arcades, although there were no attenuated vessels or bone spicule-like pigmentations observed (Figure 1B-D). FAI showed overall low autofluorescent signals and hyper-autofluorescent rings within the arcades (Figure 1E).
Images of horizontal optical coherence tomography (OCT) macular scan (left column: images of the righty eye, right column: images of the left eye). A: OCT images (patient JU#1085) show severe thinning of the outer retinal layers, with a blurred and partial disrupted ellipsoid zone, (23 years of age). B: OCT images (patient JU#1303) reveal a continuous but blurred ellipsoid zone, (9 years of age). C: OCT images for patient JU#1303 at the age of 11 are similar to those at the age of 9. D: The outer retinal layers of the right eye are labeled in a male control without any retinal disease in his early 20s.
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OCT revealed continuous but blurred EZ in both eyes at the age of 9 (Figure 2B). OCT found similar findings to those observed at the age of 9 (Figure 2C).
Visual field evaluations with Goldmann perimetry (left column: images of the left eye, right column: images of the right eye). A: Patient JU#1085 shows preserved peripheral visual fields in the V-4e isopters, although there were constricted visual fields with central scotoma of the II-4c isopters (23 years of age). B: Patient JU#1303 shows preserved peripheral visual fields in the V-4e isopters, although these were constricted especially in the superior visual fields of the I-4e isopters (11 years of age).
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Although GP showed that he had preserved peripheral visual fields in the V-4e isopters, the fields were constricted, especially in the superior visual fields of the I-4e isopters (Figure 3B).
Full field electroretinograms (ERGs). A: ERG responses from a control. B: In patient JU#1085, the ERG after 30 min of dark adaptation (DA) shows non-recordable rod and combined responses along with severely decreased cone and 30 Hz flicker responses in the left eye (left, L), whereas marked recovery of the rod and combined responses was observed after 24 h of DA in the right eye (right, R; 26 years of age). C and D: In patient JU#1303, the ERG after 30 min of DA shows non-recordable rod and combined responses along with decreased cone and 30 Hz flicker responses in the left and the right eyes, whereas partial recovery of the combined responses after 24 h of DA are observed in the left and the right eyes (13 years of age).
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Full-field ERG after 30 min of DA showed there were non-recordable rod and combined responses with decreased cone and 30 Hz flicker responses, whereas after 24 h of DA, we observed partial recovery of the combined responses in the right and left eyes (Figure 4).
PMC5893010_02
Images of horizontal optical coherence tomography (OCT) macular scan (left column: images of the righty eye, right column: images of the left eye). A: OCT images (patient JU#1085) show severe thinning of the outer retinal layers, with a blurred and partial disrupted ellipsoid zone, (23 years of age). B: OCT images (patient JU#1303) reveal a continuous but blurred ellipsoid zone, (9 years of age). C: OCT images for patient JU#1303 at the age of 11 are similar to those at the age of 9. D: The outer retinal layers of the right eye are labeled in a male control without any retinal disease in his early 20s.
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OCT revealed continuous but blurred EZ in both eyes at the age of 9 (Figure 2B). OCT found similar findings to those observed at the age of 9 (Figure 2C).
Visual field evaluations with Goldmann perimetry (left column: images of the left eye, right column: images of the right eye). A: Patient JU#1085 shows preserved peripheral visual fields in the V-4e isopters, although there were constricted visual fields with central scotoma of the II-4c isopters (23 years of age). B: Patient JU#1303 shows preserved peripheral visual fields in the V-4e isopters, although these were constricted especially in the superior visual fields of the I-4e isopters (11 years of age).
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Although GP showed that he had preserved peripheral visual fields in the V-4e isopters, the fields were constricted, especially in the superior visual fields of the I-4e isopters (Figure 3B).
Full field electroretinograms (ERGs). A: ERG responses from a control. B: In patient JU#1085, the ERG after 30 min of dark adaptation (DA) shows non-recordable rod and combined responses along with severely decreased cone and 30 Hz flicker responses in the left eye (left, L), whereas marked recovery of the rod and combined responses was observed after 24 h of DA in the right eye (right, R; 26 years of age). C and D: In patient JU#1303, the ERG after 30 min of DA shows non-recordable rod and combined responses along with decreased cone and 30 Hz flicker responses in the left and the right eyes, whereas partial recovery of the combined responses after 24 h of DA are observed in the left and the right eyes (13 years of age).
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Full-field ERG after 30 min of DA showed there were non-recordable rod and combined responses with decreased cone and 30 Hz flicker responses, whereas after 24 h of DA, we observed partial recovery of the combined responses in the right and left eyes (Figure 4).
Fundus images of patient JU#1303 (left column: images of the right eye, right column: images of the left eye). Fundus (A and B) and red-free retinal (C) images show numerous dense white dots/flecks occurring mainly outside the vascular arcades (11 years of age). D: Wide-field fundus autofluorescence images show overall low autofluorescent signals and relative hyper-autofluorescent areas within the arcades (11 years of age).
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Funduscopy showed there were numerous dense white dots/flecks occurring mainly outside the vascular arcades, although there were no attenuated vessels or bone-spicule pigmentations observed (Figure 5A-C). FAI showed overall low autofluorescent signals and relative hyper-autofluorescent areas within the arcades (Figure 5D).