Li Qian, Li Yang, Zhang Xiaohui, Xu Zhangxing, Zhu Xiaoqing, Ma Kai, She Haicheng, Peng Xiaoyan
*Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China; and †Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China.
Retina. 2015 Oct;35(10):2074-84. doi: 10.1097/IAE.0000000000000592.
To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple imaging modalities.
Sixteen participants clinically diagnosed as BCD were included in the retrospective study and were categorized into 3 stages according to fundus photography. Eleven patients were genetically confirmed. Fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging features of BCD were analyzed.
On fundus autofluorescence, the abnormal autofluorescence was shown to enlarge in area and decrease in intensity with stages. Using spectral domain optical coherence tomography, the abnormalities in Stage 1 were observed to localize in outer retinal layers, whereas in Stage 2 and Stage 3, more extensive retinal atrophy was seen. In enhanced depth imaging, the subfoveal choroidal layers were delineated clearly in Stage 1; in Stage 2, destructions were primarily found in the choriocapillaris with associated alterations in the outer vessels; Stage 3 BCD displayed severe choroidal thinning. Choroidal neovascularization and macular edema were exhibited with high incidence. IVS6-8del17bp/inGC of the CYP4V2 gene was the most common mutant allele.
Noninvasive fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging may help to characterize the chorioretinal pathology of BCD at different degrees, and therefore, we propose staging of BCD depending on those methods. Physicians should be cautious of the vision-threatening complications of the disease.
使用多种成像方式对不同阶段的比埃蒂结晶状营养不良（BCD）进行特征描述。
16名临床诊断为BCD的参与者纳入回顾性研究，并根据眼底照相分为3个阶段。11名患者得到基因确诊。分析了BCD的眼底自发荧光、光谱域光学相干断层扫描和增强深度成像特征。
在眼底自发荧光方面，异常自发荧光显示随着阶段进展面积增大、强度降低。使用光谱域光学相干断层扫描，观察到1期异常位于视网膜外层，而在2期和3期，可见更广泛的视网膜萎缩。在增强深度成像中，1期黄斑下脉络膜层清晰可辨；2期主要发现脉络膜毛细血管破坏，伴有外层血管改变；3期BCD显示严重的脉络膜变薄。脉络膜新生血管和黄斑水肿的发生率很高。CYP4V2基因的IVS6-8del17bp/inGC是最常见的突变等位基因。
无创性眼底自发荧光、光谱域光学相干断层扫描和增强深度成像可能有助于不同程度地描述BCD的脉络膜视网膜病变，因此，我们建议根据这些方法对BCD进行分期。医生应警惕该疾病威胁视力的并发症。
