Department of Ophthalmology Columbia University Medical Center, New York, New York, United States.
Department of Ophthalmology, Helsinki University Hospital, Helsinki, Finland.
Invest Ophthalmol Vis Sci. 2019 Sep 3;60(12):3752-3761. doi: 10.1167/iovs.19-27366.
To ascertain cellular constituents within islands of preserved retina in choroideremia (CHM) by multimodal imaging.
CHM probands (16) and female carriers (9) of CHM were studied. Near-infrared autofluorescence (NIR-AF; 787-nm excitation; emission, >830 nm), short-wavelength autofluorescence (SW-AF; 488-nm excitation, 500- to 680-nm emission), and spectral-domain optical coherence tomography (SD-OCT) images were acquired with a confocal scanning laser ophthalmoscope. SW-AF intensities were measured by quantitative fundus autofluorescence (qAF), and NIR-AF intensity profiles were analyzed. Retinal thicknesses and visual acuity were measured.
In 19 of 31 eyes of affected males, islands of preserved NIR-AF signal were also visible as fluorescence signal in SW-AF images. Notable in 12 eyes were areas of speckled SW-AF that was hypoautofluorescent in the NIR-AF image. Islands of preserved NIR-AF and SW-AF signal were often associated with the presence of visible but thinned outer nuclear layer and discontinuous interdigitation zone, ellipsoid zone, and external limiting membrane. NIR-AF profiles revealed that even in areas of preserved retina, the NIR-AF signal from retinal pigment epithelium (RPE) melanin is greatly reduced. qAF was reduced overall. The fundus of carriers was characterized by a mosaicism in which patches of reduced NIR-AF colocalized with reduced SW-AF.
In CHM-affected males, the presence of RPE was indicated by an NIR-AF signal and the absence of hypertransmission of OCT signal into the choroid. RPE preservation was associated with better visual acuity. In carriers, patches of reduced SW-AF colocalized with decreased NIR-AF and qAF was severely reduced.
通过多模态成像确定脉络膜视网膜炎（CHM）中保留的视网膜岛中的细胞成分。
研究了 CHM 先证者（16 例）和 CHM 女性携带者（9 例）。使用共焦扫描激光检眼镜获得近红外自发荧光（NIR-AF；787nm 激发；发射，>830nm）、短波自发荧光（SW-AF；488nm 激发，500nm 至 680nm 发射）和光谱域光学相干断层扫描（SD-OCT）图像。通过定量眼底自发荧光（qAF）测量 SW-AF 强度，并分析 NIR-AF 强度曲线。测量视网膜厚度和视力。
在 31 只受影响男性的 19 只眼中，也可以在 SW-AF 图像中看到保留的 NIR-AF 信号的岛。在 12 只眼睛中，可见斑点状的 SW-AF，其在 NIR-AF 图像中呈低自发荧光。保留的 NIR-AF 和 SW-AF 信号的岛通常与可见但变薄的外核层和不连续的内插区、椭圆体区和外部限制膜的存在有关。NIR-AF 曲线显示，即使在保留的视网膜区域，视网膜色素上皮（RPE）黑色素的 NIR-AF 信号也大大降低。qAF 总体减少。携带者的眼底特征是镶嵌图案，其中 NIR-AF 减少的斑块与 SW-AF 减少的斑块共存。
在受影响的 CHM 男性中，存在 RPE 由 NIR-AF 信号指示，并且 OCT 信号没有向脉络膜过度传输。RPE 的保留与更好的视力相关。在携带者中，SW-AF 减少的斑块与 NIR-AF 和 qAF 减少的斑块共定位，qAF 严重减少。
