In vivo imaging of the photoreceptor mosaic of a rod monochromat
In vivo imaging of the photoreceptor mosaic of a rod monochromat
复制标题
DOI：
10.1016/j.visres.2008.04.006
复制
发表时间：
2008-11-01
期刊：
影响因子：
1.8
通讯作者：
Williams, David R.
中科院分区：
文献类型：
--
作者：
Carroll, Joseph;Choi, Stacey S.;Williams, David R.
完全色盲（即视杆单色性）是一种先天性视力障碍，其中视锥细胞功能缺失或严重减弱，通常是由于视锥细胞光转导级联的两个组成部分（转导蛋白或环核苷酸门控通道）之一的突变所致。先前关于锥体结构的组织学数据是相互矛盾的；表明从正常数量的中央凹锥体到完全没有中央凹锥体。在这里，我们使用自适应光学检眼镜从杆状单色器获得体内视网膜图像，该疾病的遗传基础由 CNGB3 基因的纯合突变组成。患者的行为数据与锥体功能缺失一致。视网膜图像显示中央凹和旁中央凹的感光细胞马赛克严重破坏，其中可见感光细胞的大小和密度与正常视杆细胞相似。需要对额外的杆状单色器进行成像，以表征基因分类患者之间光感受器嵌合体的差异，以确定哪些患者（如果有）可能接受恢复性基因治疗程序。 (c) 2008 Elsevier Ltd. 保留所有权利，
Complete achromatopsia (i.e., rod monochromacy) is a congenital vision disorder in which cone function is absent or severely diminished, often due to mutations in one of two components of the cone photo-transduction cascade (transducin or the cyclic-nucleotide gated channel). Previous histological data concerning cone structure are conflicting; suggesting anywhere from normal numbers of foveal cones to a complete absence of foveal cones. Here, we used an adaptive optics ophthalmoscope to obtain in vivo retinal images from a rod monochromat for whom the genetic basis of the disorder consists of a homozygous mutation in the CNGB3 gene. Behavioral data from the patient were consistent with an absence of cone function. Retinal images revealed a severely disrupted photoreceptor mosaic in the fovea and parafovea, where the size and density of the visible photoreceptors resembled that of normal rods. Imaging of additional rod monochromats to characterize differences in the photoreceptor mosaic between genetically classified patients will be required to determine which, if any, might be receptive to restorative gene therapy procedures. (c) 2008 Elsevier Ltd. All rights reserved,