Cella Wener, Lima Luiz H, Wang Nan-Kai, Tosi Joaquin, Yannuzzi Lawrence A, Tsang Stephen H
Ophthalmic Surg Lasers Imaging. 2010 Mar 9:1-4. doi: 10.3928/15428877-20100215-55.
To describe novel findings on fundus autofluorescence (FAF) and high-resolution optical coherence tomography (OCT) in a 27-year-old woman with the Senior-Loken syndrome (SLSN) emphasizing the photoreceptors' cilia appearance in the macula. The patient had renal transplantation early in life and poor visual acuity due to advanced autosomal recessive retinitis pigmentosa. FAF showed diffuse spots of decreased autofluorescence in the mid-periphery and a perifoveal ring of increased autofluorescence suggesting a bull's eye maculopathy. High-resolution OCT revealed a barely detectable inner-outer photoreceptor segment junction in the central macula corresponding to the area inside of the ring of increased autofluorescence, suggesting initial ciliary junction disorganization before photoreceptors death. Non-invasive technologies can monitor central photoreceptors cilliary anatomy enabling early detection of cell disorganization in diseases involving ciliopathy such as the Senior-Loken syndrome are concluded.
描述一名患有Senior-Loken综合征（SLSN）的27岁女性眼底自发荧光（FAF）和高分辨率光学相干断层扫描（OCT）的新发现，重点强调黄斑区光感受器纤毛的外观。该患者早年接受了肾移植，由于晚期常染色体隐性视网膜色素变性导致视力不佳。FAF显示中周边部有弥漫性自发荧光降低斑点，以及黄斑中心凹周围自发荧光增强环，提示靶心样黄斑病变。高分辨率OCT显示中央黄斑区内外光感受器节段连接几乎无法检测到，对应于自发荧光增强环内的区域，提示在光感受器死亡之前纤毛连接最初出现紊乱。结论是，非侵入性技术可以监测中央光感受器的纤毛解剖结构，从而能够在涉及纤毛病的疾病如Senior-Loken综合征中早期检测到细胞紊乱。
