一名基因发生突变的患者出现的去羟肌苷相关视网膜毒性。
Didanosine-Associated Retinal Toxicity in a Patient With a Mutation in the Gene.
作者信息
Lenis Tamara L, Botsford Benjamin W, Sarraf David, Papakostas Thanos D
机构信息
Retina Service, Department of Ophthalmology, Weill Cornell Medical College, New York, NY, USA.
Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, UCLA, Los Angeles, CA, USA.
出版信息
J Vitreoretin Dis. 2021 Nov 10;6(4):329-331. doi: 10.1177/24741264211044599. eCollection 2022 Jul-Aug.
PURPOSE
This article describes a case of didanosine (DDI)-associated retinal toxicity in a patient with a heterozygous pathogenic variant in the CRB1 gene.
METHODS
Case report.
RESULTS
A middle-aged patient with HIV controlled on HAART therapy, and a remote 10-year year history of treatment with DDI and tenofivir, presented with external ophthalmoplegia and well-circumscribed, midperipheral patterns of bilateral pigmentary retinopathy and chorioretinal atrophy in both eyes. Genetic testing revealed a heterozygous pathogenic variant in the gene that encodes a protein (Crumbs homolog 1) involved in regulation of cell polarity and junctions and is localized adjacent to mitochondria in the ellipsoid and myoid area.
CONCLUSIONS
This case highlights a potential role for genetic susceptibility to retinal toxicity in DDI-associated retinal toxicity. Large, prospective pharmacogenomics studies may be informative to further elucidate the role of genetic risk factors in drug-induced retinal toxicity.
目的
本文描述了一名携带CRB1基因杂合致病变异的患者出现与去羟肌苷（DDI）相关的视网膜毒性的病例。
方法
病例报告。
结果
一名中年患者，其HIV通过高效抗逆转录病毒治疗（HAART）得到控制，有10年前使用DDI和替诺福韦的治疗史，出现了双眼外展神经麻痹以及双眼周边部色素性视网膜病变和脉络膜视网膜萎缩的边界清晰的中周部病变模式。基因检测发现该基因存在杂合致病变异，该基因编码一种参与细胞极性和连接调节的蛋白质（Crumb同源物1），位于椭圆体和肌样区域中线粒体附近。
结论
该病例突出了遗传易感性在DDI相关视网膜毒性中对视网膜毒性的潜在作用。大型前瞻性药物基因组学研究可能有助于进一步阐明遗传风险因素在药物性视网膜毒性中的作用。
Zotero 插件