AI Article Synopsis
- The study aimed to determine if the number of CTG repeats in the Fuchs endothelial corneal dystrophy (FECD) genotype can predict how quickly patients clear their cornea after Descemet's Stripping Only (DSO) surgery.
- Genetic analysis was performed on saliva samples from FECD patients to measure CTG expansions, and various statistical models were used to assess the relationship between repeat counts and corneal clearance.
- Out of 11 patients, most (81.8%) had expanded CTG repeats, with a higher count associated with a significantly increased risk of not achieving corneal clearance, but the exact timing of clearance could not be predicted.
Article Abstract
Purpose: 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).
Methods: 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.
Results: 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).
Conclusion: 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.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544680 | PMC |
| http://dx.doi.org/10.3390/vision5040047 | DOI Listing |
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