Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy
Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy
复制标题
DOI：
10.1016/j.oret.2018.02.012
复制
发表时间：
2018-10-01
影响因子：
4.5
通讯作者：
Tsujikawa, Akitaka
中科院分区：
文献类型：
--
作者：
Oishi, Akio;Oishi, Maho;Tsujikawa, Akitaka
目的：评价多模式成像对Bietti晶状体营养不良(BCD)患者的诊断价值。设计：回顾性横断面研究。研究对象：伴有晶状体样沉积的脉络膜视网膜营养不良患者。方法：对患者右眼进行眼底照相、近红外反射率(NIR)、眼底自发荧光(Faf)和OCT检查。对每个患者的NIR表现为高反射率、边界清楚的Faf降低区域、视网膜色素上皮或视网膜上Bruchs膜复合体上的高反射物质以及视网膜外小管形成进行分级。主要观察指标：检测结果的敏感度和特异度用于区分有无突变的患者。结果：共纳入33例患者。Sanger测序显示20例患者为纯合子或复合杂合性突变，2例为杂合性突变。在被调查的因素中，近红外成像上的高反射外观在该队列中获得了100%的敏感性和100%的特异性。视网膜外小管的存在也是敏感的(95%)，但特异性中等(45%)。无CYP4V2突变患者的修订诊断包括视网膜色素变性、迟发性黄斑营养不良和中央乳晕脉络膜营养不良。结论：多模式成像，特别是近红外成像，有助于将具有CYP4V2突变的BCD患者与其他脉络膜视网膜营养不良伴结晶样视网膜沉积的患者进行鉴别。(C)2018年美国眼科学会
Purpose: To evaluate the diagnostic usefulness of multimodal imaging in patients with Bietti crystalline dystrophy (BCD).Design: Retrospective cross-sectional study.Participants: Patients with chorioretinal dystrophy accompanied by crystalline-like deposits. The right eyes of the patients were analyzed.Methods: Fundus photograph, near-infrared reflectance (NIR), fundus autofluorescence (FAF), and OCT images were evaluated. Presence of hyperreflectivity on NIR, well-demarcated areas of decreased FAF, hyperreflective material at or on the retinal pigment epitheliumBruchs membrane complex, and outer retinal tubulation were graded for each patient. All exons and franking introns of CYP4V2 were screened using Sanger sequencing.Main Outcome Measures: Sensitivity and specificity of the findings to discriminate patients with and without CYP4V2 mutation.Results: In total, 33 patients were included in the study. Sanger sequencing revealed homozygous or compound heterozygous CYP4V2 mutations in 20 patients and heterozygous mutations in 2 patients. Among the investigated factors, hyperreflective appearance on NIR imaging yielded 100% sensitivity and 100% specificity in this cohort. The presence of outer retinal tubulation also was sensitive (95%), but specificity was moderate (45%). The revised diagnoses of patients without CYP4V2 mutations included retinitis pigmentosa, late-onset macular dystrophy, and central areolar choroidal dystrophy.Conclusions: Multimodal imaging, especially NIR imaging, is useful to differentiate BCD patients with CYP4V2 mutations from patients with other chorioretinal dystrophies accompanied by crystalline-like retinal deposits. (C) 2018 by the American Academy of Ophthalmology