Table 1_In vivo confocal microscopic study of cornea verticillata and limbus deposits in patients with Fabry disease.docx

PurposeThis study was aimed to investigate the microstructure characteristics of cornea verticillata and limbus deposits in patients with Fabry disease (FD) using in vivo confocal microscopy (IVCM).
MethodsA total of 60 eyes from 30 patients diagnosed with FD were examined and compared with 36 eyes from 18 healthy controls in this prospective, cross-sectional, controlled, single-center study. The initial assessment of cornea verticillata (CV) was conducted using slit-lamp microscopy. Subsequently, IVCM was performed to assess deposits in the corneal and limbal epithelium. We compared the differences between the sexes (heterozygous and hemizygous) and phenotypes (classical and non-classical).
ResultsThe epithelial deposit detection rate with IVCM was statistically higher (52/60, 86.67%) compared to the biomicroscopic evaluation of CV using a silt lamp (46/60, 76.67%) (p = 0.031). A higher prevalence of corneal epithelial deposits was observed in the classical phenotype as compared to the non-classical phenotype (p = 0.023). Surprisingly, cardiac variants previously lacking cornea verticillata show a high prevalence (85.71%) of corneal epithelial deposits under IVCM. The prevalence and severity of deposits, especially in limbal epithelial rete pegs, were higher in FD than in controls (p < 0.001).
ConclusionCompared with slit-lamp microscopy, IVCM provides a more effective tool for examining the epithelial deposits in patients with FD. Patients with FD demonstrated a profound bilateral increase in corneal epithelial deposits and limbal hyperreflective cells compared to controls, with more prominent pathological changes observed in classical phenotype individuals. The high prevalence of epithelial deposits observed through IVCM in the cardiac variant highlights the essential ability of IVCM as an effective diagnostic tool.

研究目的
本研究旨在利用活体共聚焦显微镜（in vivo confocal microscopy, IVCM）探究法布里病（Fabry disease, FD）患者角膜涡状沉积物（cornea verticillata, CV）及角膜缘沉积物的微观结构特征。
研究方法
本研究为一项前瞻性、横断面、对照单中心研究，共纳入30例经确诊的法布里病患者的60只眼，并与18名健康对照者的36只眼进行对比。首先采用裂隙灯显微镜对角膜涡状沉积物进行初筛评估，随后通过活体共聚焦显微镜检测角膜及角膜缘上皮的沉积物。本研究还对比了不同性别（杂合子与半合子）及表型（经典型与非经典型）间的差异。
研究结果
活体共聚焦显微镜检测上皮沉积物的检出率（52/60，86.67%）显著高于裂隙灯显微镜对角膜涡状沉积物的生物显微镜检查检出率（46/60，76.67%）（p=0.031）。经典型表型患者的角膜上皮沉积物患病率高于非经典型表型患者（p=0.023）。值得注意的是，既往被认为无角膜涡状沉积物的心脏表型患者，经IVCM检测后角膜上皮沉积物患病率高达85.71%。与健康对照组相比，法布里病患者的沉积物患病率及严重程度（尤其是角膜缘上皮网嵴）均显著更高（p<0.001）。
研究结论
与裂隙灯显微镜相比，活体共聚焦显微镜可作为检测法布里病患者上皮沉积物的更有效工具。与健康对照组相比，法布里病患者的角膜上皮沉积物及角膜缘高反射细胞呈显著双侧升高，且经典型表型患者的病理改变更为显著。心脏表型患者经IVCM检测出的上皮沉积物高患病率，进一步凸显了IVCM作为有效诊断工具的重要价值。