色素失禁症相关性视网膜病变5例的临床分析

Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor

目的探讨色素失禁症相关性视网膜病变的临床表现及抗血管内皮生长因子治疗效果。方法回顾性系列病例研究。收集2005至2017年确诊的5例色素失禁症相关性视网膜病变患儿的临床资料。患儿均为女性,就诊年龄1~5个月,平均2.4个月。详细记录患儿病史及家族史,5例(10只眼)均行眼前节检查、玻璃体检查、眼底检查和眼压检查,并用Retcam系统行眼底照相,其中2例(4只眼)曾行荧光素眼底血管造影检查。根据患儿眼底具体情况选择单纯玻璃体腔注药术、玻璃体腔注药术联合激光光凝治疗或玻璃体腔注药术联合玻璃体切除术等,观察术后效果。结果初诊时视网膜前出血未累及黄斑区3例(5只眼),黄斑区视网膜前出血1例(1只眼),视网膜新生血管3例(5只眼),视网膜脱离2例(2只眼),周边无血管区5例(8只眼)。视网膜前出血未累及黄斑区5只眼中有3只眼累及视网膜4个象限,2只眼累及颞上、颞上2个象限。治疗方案及药物选择:3例(5只眼)单纯玻璃体腔注射抗VEGF药物治疗,1例(1只眼)给予玻璃体腔注射抗VEGF药物治疗加激光光凝,1例(1只眼)给予玻璃体腔注射抗VEGF药物治疗加玻璃体切除术,1例(1只眼)给予玻璃体腔注射抗VEGF药物治疗加视网膜冷冻术及外加压术。在单纯玻璃体腔注射抗VEGF药物治疗患者中有2例(3只眼)单次给药,1例(2只眼)多次重复给药。注射药品选择4例(6只眼)雷珠单克隆抗体(注射剂量0.025 ml),1例(2只眼)康柏西普(注射剂量0.025 ml)。至随访日,4例(7只眼)患儿视网膜在位,2例(2只眼)可见视网膜前增生膜,1例(1只眼)视网膜脱离。结论初步证实了抗血管内皮生长因子药物在色素失禁症相关性视网膜病变治疗中的有效性。但最佳使用时机、剂量和局部及全身安全性问题有待更多研究进一步观察。

Objective To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor.Methods Retrospective study of 5 patients(8 eyes)diagnosed retinopathy of incontinentia pigmenti from 2005 to 2017,including 0 males and 5 females(8 eyes involved)with an average age of 2.4 months(range,1-5 months).Medical history and family history were recorded in detail for all children.We did the examination of anterior segment of the eyeball,vitreous body,fundus and intraocular pressure for the 5 patients(8eyes).What′s more,wo also took pictures for fundus with the machine of Retcam.Fundus fluorescence angiography(FFA)was performed in 2 patients(4 eyes).Different surgical methods were selected according to the specific conditions of the eye and postoperative were observed.Results At the time of initial diagnosis,preretinal hemorrhage did not affect the macular region in 3 cases(5 eyes),pre retinal hemorrhage affected the macular region in 1 case(1 eye),the retinal neovascularization in 3 cases(5 eyes),the retinal detachment in 2 cases(2 eyes),and nonvascular zone of peripheral retinal in 5cases(8 eyes).Treatment and drug selection:3 cases(5 eyes)were treated with injection anti-VEGF drug into vitreous body cavity,1 case(1 eye)was treated with injection anti-VEGF drug into vitreous body cavity plus laser photocoagulation,1 case(1 eye)was treated with anti-VEGF drugs plus vitrectomy.1 case(1 eye)was treated with anti-VEGF drugs plus retinal cryotherapy and sclera bucking.In patients of injection anti-VEGF drug into vitreous body cavity,2 cases(3 eyes)were given a single dose and 1 case(2 eyes)was given a repeated dose.Drug selection:4 cases(6 eyes)ranibizumab injection(injection dose 0.025 ml),1 case(2 eyes)conbercept injection(injection dose 0.025 ml).To follow-up date,etina was flat in 4 patients(7 eyes),epiretinal membrane in 2 patients(2 eyes),retinal detachment in 1 patient(1 eye).Conclusions The efficacy of anti-vascular endothelial growth factor in the treatment of retinopathy of incontinentia pigmenti was prelininarily confimed.However,the optimal use timing,dosage,local and systemic safety issues were needed to be further studied.