背景:角膜营养不良是一组罕见的,通常是双侧的遗传性疾病,对称,慢慢进步,与环境或系统因素无关。大多数出版物都以典型的临床表现介绍了该疾病的晚期形式。不同上皮和基质角膜营养不良的初始体征和症状并不具体;因此,建立这些疾病的早期特征性角膜特征非常重要,可以指导诊断过程。
方法:本研究的主要目的是报告一例怀疑患有角膜营养不良的双侧前角膜受累的儿科患者的鉴别诊断。一名8岁男性患者无症状,持久性,肤浅的,双边,弥漫,角膜前混浊。裂隙灯检查结果无特异性。尽管裂隙灯检查缺乏可见的基质参与,基于共聚焦显微镜和光学相干断层扫描的角膜分析显示了黄斑角膜营养不良(MCD)的特征。CHST6基因测序证实了MCD的诊断。MCD的早期角膜特征性特征,根据本病例报告的结果确定,包括角膜散光(非特异性),弥漫性角膜变薄,没有角膜扩张的模式(特定),和共聚焦显微镜的特征(特定),包括多个,黑暗,不同角膜深度的定向条纹。
结论:临床检查应辅以角膜成像技术,如共聚焦显微镜和光学相干层析成像。在怀疑角膜营养不良的患者中,基因检测在建立最终诊断中起着重要作用。
BACKGROUND: Corneal dystrophies are a group of rare, inherited disorders that are usually bilateral, symmetric, slowly progressive, and not related to environmental or systemic factors. The majority of publications present the advanced form of the disease with a typical clinical demonstration. The initial signs and symptoms of different epithelial and stromal corneal dystrophies are not specific; therefore, it is very important to establish the early characteristic corneal features of these disorders that could guide the diagnostic process.
METHODS: The main purpose of this study was to report the differential diagnosis of a pediatric patient with bilateral anterior corneal involvement suspected of corneal dystrophy. An 8-year-old male patient presented with asymptomatic, persistent, superficial, bilateral, diffuse, anterior corneal opacities. Slit lamp examination results were not specific. Despite the lack of visible stromal involvement on the slit lamp examination, corneal analysis based on confocal microscopy and optical coherence tomography revealed characteristic features of macular corneal dystrophy (MCD). The diagnosis of MCD was confirmed by CHST6 gene sequencing. The early corneal characteristic features of MCD, established based on the findings of this case report, include corneal astigmatism (not specific), diffuse corneal thinning without a pattern of corneal ectasia (specific), and characteristic features on confocal microscopy (specific), including multiple, dark, oriented striae at different corneal depths.
CONCLUSIONS: The clinical examination should be complemented with corneal imaging techniques, such as confocal microscopy and optical coherence tomography. In patients suspected of corneal dystrophy, genetic testing plays an important role in establishing the final diagnosis.