Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. Panewnicka 65, 40-760, Katowice, Poland.
Ophthalmology Department, Railway Hospital in Katowice, Katowice, Poland.
BMC Ophthalmol. 2021 Jul 23;21(1):285. doi: 10.1186/s12886-021-02041-y.
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.
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.
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.
角膜营养不良是一组罕见的遗传性疾病，通常为双侧、对称、缓慢进展，与环境或全身因素无关。大多数文献报道的是疾病的晚期形式，具有典型的临床表现。不同的上皮和基质性角膜营养不良的初始体征和症状并不特异；因此，确定这些疾病的早期特征性角膜特征非常重要，这可以指导诊断过程。
本研究的主要目的是报告一例双侧前角膜受累、疑似角膜营养不良的儿科患者的鉴别诊断。一名 8 岁男性患者出现无症状、持续、浅层、双侧、弥漫性、前角膜混浊。裂隙灯检查结果不特异。尽管裂隙灯检查未见明显基质受累，但基于共聚焦显微镜和光学相干断层扫描的角膜分析显示出黄斑性角膜营养不良（MCD）的特征性表现。CHST6 基因测序证实了 MCD 的诊断。基于本病例报告的结果，MCD 的早期角膜特征包括角膜散光（不特异）、弥漫性角膜变薄但无角膜扩张模式（特异）和共聚焦显微镜的特征性表现（特异），包括在不同角膜深度存在多个暗向排列的条纹。
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断层扫描。对于疑似角膜营养不良的患者，基因检测在确定最终诊断中起着重要作用。
