雷珠单抗治疗增强型S锥体综合征脉络膜新生血管形成5年病例
A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab.
作者信息
Bertoli Federica, Pignatto Silvia, Rizzetto Francesca, Lanzetta Paolo
机构信息
Department of Medicine - Ophthalmology, University of Udine, Udine, Italy.
Scientific Institute I.R.C.C.S. "Eugenio Medea" - "La Nostra Famiglia", Udine, Italy.
出版信息
Case Rep Ophthalmol. 2018 Dec 21;9(3):510-515. doi: 10.1159/000495743. eCollection 2018 Sep-Dec.
INTRODUCTION
We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections.
CASE REPORT
A 5-year-old boy presented with round-shaped fibrotic subretinal lesions in both eyes with surrounding subretinal fluid and progressive visual deterioration in the right eye. Fine foci of increased autofluorescence were observed along the arcades in both eyes. Fluorescein angiography revealed the presence of CNV in his right eye, and treatment with ranibizumab was initiated, with significant improvement in vision. Subsequent electroretinogram examination and genetic studies of the patient and his two younger siblings confirmed the diagnosis of ESCS.
CONCLUSION
CNV has been reported to occur in different inherited retinal degenerations, including ESCS. Our experience confirms that treatment with ranibizumab in patients with CNV-complicated ESCS can be potentially vision-saving.
引言
我们描述了年龄最小的伴有脉络膜新生血管（CNV）的增强型S锥体综合征（ESCS）病例，该病例通过玻璃体内注射雷珠单抗成功治疗。
病例报告
一名5岁男孩双眼出现圆形纤维化视网膜下病变，伴有周围视网膜下液，右眼视力进行性下降。双眼沿视网膜血管弓观察到细微的自发荧光增强灶。荧光素血管造影显示右眼存在CNV，遂开始用雷珠单抗治疗，视力有显著改善。随后对该患者及其两个弟弟进行的视网膜电图检查和基因研究证实了ESCS的诊断。
结论
据报道，CNV可发生于不同的遗传性视网膜变性，包括ESCS。我们的经验证实，对于合并CNV的ESCS患者，使用雷珠单抗治疗可能挽救视力。
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