Spiteri Natasha, Hirnschall Nino, van Bysterveldt Katherine, Hou Alec Lin, Moloney Gregory, Ball Matthew, Vincent Andrea L
Department of Ophthalmology, Countess of Chester Hospital, Liverpool Road, Chester, Cheshire CH2 1UL, UK.
VIROS-Vienna Institute for Research in Ocular Surgery, a Karl Landsteiner Institute, Hanusch Hospital, Heinrich-Collin-Straße 30, 1140 Vienna, Austria.
Vision (Basel). 2021 Oct 9;5(4):47. doi: 10.3390/vision5040047.
To investigate whether Fuchs endothelial corneal dystrophy (FECD) genotype, specifically transcription factor 4 ( CTG triplet repeat "load" predicts time to clearance following Descemet's Stripping Only (DSO).
This prospective, interventional trial was conducted on consecutive FECD patients undergoing DSO. Genetic analysis using patients' saliva was performed to assess the extent of CTG expansion using short tandem repeat analysis, corroborated gel electrophoresis and Sanger sequencing. Polymerase chain reaction and bidirectional Sanger sequencing was undertaken. Partial least square regression and logistic regression modelling was used to evaluate the predictive power of repeats on corneal clearance.
Of 11 eyes of 11 patients, 8 showed complete corneal clearance. For these 8 patients, mean allele repeat was 24.8 (SD: 23.7, range: 11-63) and 63.4 (SD: 30.3; range: 11-97), respectively. In total, 9/11 (81.8%) had expanded CTG repeats (>40) in one allele. In cases with an allele repeat ≥80, there was a significantly increased risk of corneal non-clearance (odds ratio 18.2, = 0.009).
Whilst it was not possible to predict time to corneal clearance based on CTG repeats, there is a significant correlation between allele repeats and achievement of corneal clearance.
研究富克斯内皮性角膜营养不良（FECD）基因型，特别是转录因子4（CTG三联体重复序列“负荷”）是否能预测单纯后弹力层剥除术（DSO）后角膜清除的时间。
对连续接受DSO的FECD患者进行了这项前瞻性干预试验。利用患者唾液进行基因分析，采用短串联重复序列分析、凝胶电泳和桑格测序相结合的方法评估CTG扩增程度。进行了聚合酶链反应和双向桑格测序。采用偏最小二乘回归和逻辑回归模型评估重复序列对角膜清除的预测能力。
11例患者的11只眼中，8只角膜完全清除。对于这8例患者，平均等位基因重复序列分别为24.8（标准差：23.7，范围：11 - 63）和63.4（标准差：30.3；范围：11 - 97）。总体而言，9/11（81.8%）患者的一个等位基因中CTG重复序列发生了扩增（>40）。在等位基因重复序列≥80的病例中，角膜未清除的风险显著增加（优势比18.2，P = 0.009）。
虽然无法根据CTG重复序列预测角膜清除时间，但等位基因重复序列与角膜清除的实现之间存在显著相关性。
