In vivo Imaging of Reis-Bucklers and Thiel-Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography
In vivo Imaging of Reis-Bucklers and Thiel-Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography
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DOI：
10.2147/opth.s265136
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发表时间：
2020-01-01
影响因子：
2.2
通讯作者：
Sugiyama, Kazuhisa
中科院分区：
文献类型：
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作者：
Nishino, Tsubasa;Kobayashi, Akira;Sugiyama, Kazuhisa
目的：应用前段光学相干断层扫描（AS-OCT）研究遗传确证的Reis-Bucklers角膜营养不良（RBCD）和Thiel-Behnke角膜营养不良（TBCD）患者的体内角膜变化。设计：单中心、前瞻性、比较病例系列。方法：对来自3个家系（3男4女）的7例RBCD [Arg124Leu （R124L）人转化生长因子β诱导（TGFBI）基因杂合错义突变]患者和来自3个家系（3男1女）的4例TBCD [Arg555Gln (R555Q) TGFBI基因杂合错义突变]患者进行检测。6例RBCD患者和3例TBCD患者在角膜穿透性角膜移植术、光疗性角膜切除术和电解手术后出现复发。所有患者均行裂隙灯生物显微镜检查，随后行AS-OCT检查。选择的角膜AS-OCT图像定性地评估角膜沉积物的形状和光反射程度的变化。结果：裂隙灯生物显微镜下，各营养不良组织鲍曼层呈特征性不规则灰色阴影，RBCD呈地理型，TBCD呈蜂窝状。在每种营养不良中，as - oct观察到鲍曼层及其邻近的上皮/间质中有明显的特征性沉积。在RBCD中，带状病变在间质处反射性强，边缘明显。相比之下，同一层TBCD的沉积物向上皮呈锯齿状，间质边缘差。结论：AS-OCT能够清晰地识别RBCD和TBCD相关的体内角膜显微结构变化特征。因此，可以实现RBCD和TBCD的体内分化。
Purpose: To investigate in vivo corneal changes of genetically confirmed Reis-Bucklers corneal dystrophy (RBCD) and Thiel-Behnke corneal dystrophy (TBCD) using anterior segment optical coherence tomography (AS-OCT).Design: A single-center, prospective, comparative case series.Methods: Seven patients from 3 pedigrees (3 males, 4 females) with RBCD [Arg124Leu (R124L) heterozygous missense mutation of human transforming growth factor beta-induced (TGFBI) gene] and 4 patients from 3 pedigrees (3 males, 1 female) with TBCD [Arg555Gln (R555Q) heterozygous missense mutation of TGFBI gene] were examined. Six patients with RBCD and three patients with TBCD exhibited recurrence after corneal surgery including penetrating keratoplasty, phototherapeutic keratectomy, and electrolysis. All patients were examined by slit-lamp biomicroscopy followed by AS-OCT. Selected AS-OCT images of the cornea were evaluated qualitatively for changes in shape and degree of light reflection of comeal deposits.Results: Slit-lamp biomicroscopy showed characteristic irregular gray opacities in Bowman's layer in each dystrophy: a geographic pattern in RBCD and a honeycomb pattern in TBCD. In each dystrophy, distinct characteristic deposits were observed by AS-OCT as a banding lesion in Bowman's layer and its adjacent epithelium/stroma. In RBCD, the banding lesion was highly reflective and sharply margined at the stroma. In contrast, deposits in TBCD in the same layer showed a saw-tooth pattern toward the epithelium and poorly margined at the stroma.Conclusion: AS-OCT is able to clearly identify characteristic in vivo corneal microstructural changes associated with RBCD and TBCD. As a result, in vivo differentiation of RBCD and TBCD can be achieved.