PMC4843118_01
Multimodal imaging in cone-rod dystrophy subject DH_1192. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). In this subject a large elliptical EZ disruption with a central core of low reflectivity is visualized with en face OCT (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). The confocal AOSLO image revealed ambiguous reflectivity from the present photoreceptors (F). The split-detector image revealed that the central core of the disruption contains dramatically enlarged (likely cone) photoreceptor inner segments, surrounded by smaller diameter (likely rod) photoreceptors indicated by "*" (G). The darkest area of the en face image (E) contains few scattered enlarged inner segments, visible in the split-detector image (G, arrows). The corresponding locations in the confocal image (F) are marked with open arrows. B-D scalebars = 200 mum. E-G scalebars = 100 mum.
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F2
In contrast to the subjects discussed above (Figures 2,3,4,6), en face OCT disruption is demarcated hyper not hypo-reflectivity.
PMC4843118_02
Multimodal imaging in MacTel subject DW_10105. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). The en face OCT revealed a clover leaf shaped EZ disruption centered at the macula (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). Within the EZ disruption there are two distinct levels of reduced reflectivity, the center of the disruption shows nearly no reflectivity, while there is a bordering region that reflects at a level between the center and the normal EZ outside (E). The confocal AOSLO imaging revealed waveguiding photoreceptors only in the regions of normal EZ reflectivity (F). The split-detector image on the other hand revealed photoreceptors in the border zone of abnormal EZ reflectivity, as well as photoreceptors within the EZ disruption (G). B-D scalebars = 200 mum. E-G scalebars = 100 mum.
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F3
Figure 3 summarizes the imaging for this subject's right eye.
PMC4843118_03
Multimodal imaging in cg-BOT subject SR_10139. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). OCT imaging in this subject with ocular trauma 35 years previous revealed a small EZ disruption in the parafovea, approximately 0.75mm supero-temporal from the foveal center (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). In addition to the EZ disruption, the B-scan OCT revealed interdigitation zone (IZ) disruption that spans a larger area (B & C). Confocal AOSLO revealed a small square shaped region of reduced photoreceptor waveguiding larger than the region of EZ disruption (F). The split-detector image revealed a mosaic of enlarged photoreceptors (arrows) in the area of EZ disruption, surrounded by apparently normal cone and rod photoreceptors (G). The corresponding locations in the confocal image (F) are marked with open arrows. The dark vertical stripes in the confocal image (F) are likely vessel shadows, which appear as a blur in the split-detector image (G). B-D scalebars = 200 mum. E-G scalebars = 100 mum.
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F4
Figure 4 summarizes the imaging for this subject's left eye.
Comparison of disruption size in confocal AOSLO, IZ and EZ en face OCT segmentation. The two disruptions above show better spatial correspondence of confocal disruptions to that seen with IZ segmentation in en face OCT. Since the IZ has been reported to represent the intersection of the photoreceptor outer segments with the RPE, this suggests that the hypo-reflectivity observed in the confocal images is likely related to abnormalities in the outer segments. Scalebars = 100 mum.
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F5
As with subject SR_10139, the IZ disruption (as opposed to the EZ disruption) on en face OCT better correlates to confocal AOSLO findings of reduced photoreceptor waveguiding (Figure 5.).
PMC4843118_04
Comparison of disruption size in confocal AOSLO, IZ and EZ en face OCT segmentation. The two disruptions above show better spatial correspondence of confocal disruptions to that seen with IZ segmentation in en face OCT. Since the IZ has been reported to represent the intersection of the photoreceptor outer segments with the RPE, this suggests that the hypo-reflectivity observed in the confocal images is likely related to abnormalities in the outer segments. Scalebars = 100 mum.
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F5
As with subject SR_10139, the IZ disruption (as opposed to the EZ disruption) on en face OCT better correlates to confocal AOSLO findings of reduced photoreceptor waveguiding (Figure 5.).
Multimodal imaging in cg-BOT subject WW_0923. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). En face imaging in this subject revealed a tri-petaloid EZ disruption centered at the fovea (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). Confocal AOSLO imaging revealed a similarly shaped, though enlarged, region of non-waveguiding photoreceptors (F). Split-detector imaging revealed a nearly contiguous mosaic of photoreceptors which change dramatically in size within small area (G). There is only one small region at the bottom right corner of the disruption where there appears to be a complete absence of photoreceptor structure (G). B-D scalebars = 200 mum. E-G scalebars = 100 mum.
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F6
Figure 6 summarizes the imaging for this subject's left eye.
PMC4843118_05
Multimodal imaging in cone-rod dystrophy subject DH_1192. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). In this subject a large elliptical EZ disruption with a central core of low reflectivity is visualized with en face OCT (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). The confocal AOSLO image revealed ambiguous reflectivity from the present photoreceptors (F). The split-detector image revealed that the central core of the disruption contains dramatically enlarged (likely cone) photoreceptor inner segments, surrounded by smaller diameter (likely rod) photoreceptors indicated by "*" (G). The darkest area of the en face image (E) contains few scattered enlarged inner segments, visible in the split-detector image (G, arrows). The corresponding locations in the confocal image (F) are marked with open arrows. B-D scalebars = 200 mum. E-G scalebars = 100 mum.
nihms778677f2.jpg
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F2
In contrast to the subjects discussed above (Figures 2,3,4,6), en face OCT disruption is demarcated hyper not hypo-reflectivity.
Multimodal imaging in BCM subject MP_10097. The location of the en face OCT shown in (D) is outlined on the fundus photograph (A). The EZ disruption in this patient is most clearly visualized with B-scan OCT, as the en face image revealed a poorly discriminated hyper-reflectivity at the center of the macula (D). Dashed lines on D indicate locations of the horizontal and vertical B-scans (B,C), while the square represents the area shown in (E-G). The confocal AOSLO image revealed a severely disrupted mosaic, where the vast majority of photoreceptors are non-waveguiding (F). The split-detector image revealed a contiguous photoreceptor mosaic composed of cones at the center, and then rods and cones in the immediate surrounding parafovea (G). The area of EZ hyper-reflectivity in (E) corresponds spatially to the area of densest cone packing (G). Although the EZ reflectivity appears normal in the parafovea (E), the confocal image revealed that the majority of cones are abnormal and non-waveguiding (F). B-D scalebars = 200 mum. E-G scalebars = 100 mum.
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F7
Figure 7 summarizes the imaging for this subject's right eye. En face OCT revealed an elliptical area of EZ hyper-reflectivity spanning from the bottom left to the top right corner of the area shown in Figure 7E.