Eriksson Urban, Larsson Eva, Holmström Gerd
Department of Neuroscience, Ophthalmology, University Hospital, Uppsala, Sweden.
Acta Ophthalmol Scand. 2004 Apr;82(2):218-23. doi: 10.1111/j.1600-0420.2004.00227.x.
To describe the value of optical coherence tomography (OCT) as a diagnostic tool in the diagnosis of X-linked retinoschisis.
We report three boys aged between 8 and 17 years, diagnosed with X-linked retinoschisis. During investigations they were examined with OCT (Zeiss Humphrey OCT 1, upgraded version). Single scans of the central posterior pole and the region around the vascular arcades were obtained. Two of the boys underwent full-field ERG according to ISCEV standards. Genetic analysis was performed in all three boys, with sequencing of the XLRS gene.
The OCT results revealed a pattern with a cleavage of the retina in two distinct planes, one deep (outer retina) and one superficial. This was very obvious in one patient and a similar but not as pronounced pattern was seen in the other two cases. The two layers were superficially connected with thin-walled, vertical palisades, separated by low reflective, cystoid spaces, confluent and most prominent in the foveal region.
Full-field ERG and/or DNA analysis are well known methods used for diagnosis of X-linked juvenile retinoschisis. In this paper, we suggest that OCT can also be a helpful diagnostic tool.
描述光学相干断层扫描（OCT）作为诊断工具在X连锁视网膜劈裂症诊断中的价值。
我们报告了3名年龄在8至17岁之间、被诊断为X连锁视网膜劈裂症的男孩。在检查过程中，他们接受了OCT（蔡司汉弗莱OCT 1升级版）检查。获取了中央后极和血管弓周围区域的单次扫描图像。其中两名男孩按照国际临床视觉电生理学会（ISCEV）标准进行了全视野视网膜电图（ERG）检查。对所有三名男孩进行了基因分析，对XLRS基因进行了测序。
OCT结果显示视网膜在两个不同平面出现劈裂，一个在深层（外层视网膜），一个在浅层。这在一名患者中非常明显，在另外两名患者中也观察到了类似但不太明显的模式。这两层通过薄壁垂直柱状结构在表面相连，由低反射的囊样间隙分隔，这些间隙在黄斑区汇合且最为明显。
全视野ERG和/或DNA分析是用于诊断X连锁青少年视网膜劈裂症的知名方法。在本文中，我们认为OCT也可以是一种有用的诊断工具。
