Department of Vitreo-Retina and Ocular Oncology, Sankara Eye Hospital, Bengaluru, Karnataka, India.
Indian J Ophthalmol. 2020 Apr;68(4):660-662. doi: 10.4103/ijo.IJO_1249_19.
A lady who underwent lensectomy for microspherophakia and pars plana vitrectomy for retinal detachment in her left eye developed recurrent filtering blebs at the site of sclerotomies. Filtering blebs were managed by suturing the sclerotomies. Targeted gene sequencing identified a variant of ASPH gene (p.Arg688Gln) which is not known to be associated with Traboulsi syndrome. But considering the paucity of cases with genetic analysis, it would be possible that p.Arg688Gln is a pathogenic variant. This is the first case report of Traboulsi syndrome due to an ASPH variant not reported earlier that can lead to recurrent filtering blebs.
一位女士因左眼小眼球症行晶状体切除术和扁平部玻璃体切除术治疗视网膜脱离,术后在巩膜切开部位出现复发性滤过泡。通过缝合巩膜切开部位来处理滤过泡。靶向基因测序发现 ASPH 基因(p.Arg688Gln)的变异,该变异与 Traboulsi 综合征无关。但考虑到具有基因分析的病例很少,p.Arg688Gln 可能是一种致病性变异。这是首例因之前未报道的 ASPH 变异导致 Traboulsi 综合征和复发性滤过泡的病例报告。