伴有科茨样反应及3种新序列变异的莱伯先天性黑矇：简短报告
Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report.
作者信息
Tavakoli Mehdi, Huang Amy M, Cernichiaro-Espinosa Linda, Santiesteban Carlos E Mendoza, Berrocal Audina M
机构信息
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
出版信息
J Vitreoretin Dis. 2020 Mar 5;4(5):430-432. doi: 10.1177/2474126420909248. eCollection 2020 Sep-Oct.
PURPOSE
This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes.
METHODS
The patient underwent complete ophthalmic and retinal evaluations including fluorescein angiography and optical coherence tomography as well as genetic studies. She was treated with intravitreal injection of intravitreal bevacizumab and laser photocoagulation.
RESULTS
Genetic analysis of the patient identified 2 novel sequence variants in the (centrosomal protein 290) gene and another novel sequence variant in the (RPGR interacting protein 1) gene.
CONCLUSIONS
The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease.
目的
本报告讨论了一名患有莱伯先天性黑蒙的患者，该患者出现严重的双侧类科茨反应，并在2个不同基因中发现了3个新的序列变异。
方法
该患者接受了全面的眼科和视网膜评估，包括荧光素血管造影和光学相干断层扫描以及基因研究。她接受了玻璃体腔内注射贝伐单抗和激光光凝治疗。
结果
对该患者的基因分析在（中心体蛋白290）基因中鉴定出2个新的序列变异，在（RPGR相互作用蛋白1）基因中鉴定出另一个新的序列变异。
结论
莱伯先天性黑蒙中类科茨反应的临床表现可能与某些基因的序列变异有关。该患者中多个基因序列变异的存在可能导致了疾病的严重程度。
Zotero 插件