A sutureless technique for securing leaking sclerotomies with viscoelastic substances in 23-gauge microincision vitrectomy surgery

AIM:To introduce and evaluate the clinical efficacy of a new technique,the use of viscoelastic substances(VS)to close leaking sclerotomy in 23G microincision vitrectomy,and to observe its effect on the visual acuity and intraocular pressure(IOP)of patients.METHODS:Patients who underwent 23G vitrectomy in Ningbo Eye Hospital before the use of VS technique(June 2019 to September 2020)and after the use of VS technique(October 2020 to December 2021)were selected as the subjects of this study.The above cases underwent operation by the same surgeon and were retrospectively analyzed.VS technique was used as the alternative to suturing,in which a small amount of VS was injected at the leaking sclerotomy and then gently massaged to confirm leaking sclerotomy closure.RESULTS:A total of 174 eyes were covered in the study,including 84 eyes in the control group(before the use of VS technique)and 90 eyes in the VS technique group.The number of eyes that needed to be sutured decreased considerably from 42.9%in the control group to 3.3%in the VS technique group,and the proportion of subconjunctival hemorrhage at 1-2d after surgery decreased remarkably from 35.7%in the control group to 2.2%in the VS technique group.No substantial differences in the incidence of mean IOP and low IOP were found between 1-2 and 3-20d after surgery in the VS technique group.No major complications associated with VS technique were identified during the study.CONCLUSION:In 23G microincision vitrectomy,VS technique is a safe,simple,and effective method to close leaking sclerotomy.

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

AIMTo identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD).METHODSA southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family members.RESULTSThe results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block transactivation.CONCLUSIONAll modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.