目的:描述三种婴儿角膜混浊的前节发育不全,即,先天性遗传性内皮营养不良(CHED),原发性先天性青光眼(PCG),和彼得斯异常(PA)在临床特征方面,组织病理学,遗传关联,和使用超声生物显微镜(UBM)和显微镜集成术中光学相干断层扫描(i-OCT)等成像方式的诊断成像轮廓。
方法:74只眼与22只眼的CHED,PA的28眼,对24只眼的PCG进行了临床评估,并使用UBM和i-OCT进行了成像。16例手术患者的角膜纽扣进行了组织病理学分析,而采用全外显子组测序对23例患者进行了基因分析.
结果:角膜直径(CD)和UBM参数,例如前房深度(ACD),虹膜厚度(IT),和睫状体(CB)厚度显示三个类别之间的统计显着差异。在PA,9只眼具有第三种罕见表型,仅后角膜缺损,无虹膜粘连。在所有测试的CHED患者中都发现了基因突变,在83.3%的PCG患者中,和80%的第三型PA患者。i-OCT有助于角膜混浊的表征,识别角膜后部缺损,虹膜角膜粘连,和Descemet膜的轮廓。
结论:上述疾病的重叠表型会导致诊断困境和参数,如CD,UBMACD,IT,和CB厚度有助于区分它们。i-OCT可以帮助以高分辨率对疾病进行分类,非接触方式,并能较好地勾画角膜特征。罕见的第三种PA表型可能具有遗传关联。
OBJECTIVE: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteristics, histopathology, genetic association, and diagnostic imaging profiles using imaging modalities such as ultrasound biomicroscopy (UBM) and microscope-integrated intraoperative optical coherence tomography (i-OCT).
METHODS: Seventy-four eyes with 22 eyes of CHED, 28 eyes of PA, and 24 eyes of PCG were clinically evaluated and underwent imaging using UBM and i-OCT. Corneal buttons of 16 operated patients underwent histopathological analysis, while genetic analysis was done in 23 patients using whole-exome sequencing.
RESULTS: Corneal diameters (CD) and UBM parameters like anterior chamber depth (ACD), iris thickness (IT), and ciliary body (CB) thickness revealed a statistically significant difference between the three categories. In PA, 9 eyes had a third rare phenotype with only a posterior corneal defect with no iris adhesions. Genetic mutations were seen in all tested patients with CHED, in 83.3% of patients with PCG, and in 80% of patients with the third type of PA. i-OCT helped in the characterization of corneal opacity, identification of posterior corneal defects, iridocorneal adhesions, and contour of Descemet\'s membrane.
CONCLUSIONS: Overlapping phenotypes of the above disorders cause a diagnostic dilemma and parameters like CDs, UBM ACD, IT, and CB thickness help differentiate between them. i-OCT can help in classifying the diseases in a high resolution, non-contact manner, and can better delineate corneal characteristics. The rare third type of PA phenotype may have a genetic association.