一名患有迪格奥尔格（22q11.2缺失）综合征儿童的新型视网膜观察结果。
Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome.
作者信息
Kozak Igor, Ali Syed A, Wu Wei-Chi
机构信息
Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.
Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
出版信息
Am J Ophthalmol Case Rep. 2022 Jun 6;27:101608. doi: 10.1016/j.ajoc.2022.101608. eCollection 2022 Sep.
PURPOSE
DiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions.
OBSERVATIONS
Retinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage were observed in a premature child with DiGeorge syndrome. Vitreous hemorrhage was treated with intravitreal injection of -angiogenicagents and pars plana vitrectomy surgery. Fundus fluorescein angiography did not confirm leakage of dye from dysplastic retinal vessels.
CONCLUSIONS AND IMPORTANCE
Patients with DiGeorge syndrome may develop retinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage.
目的
迪乔治（22q11.2缺失）综合征是最常见的人类缺失综合征，有广泛的眼部表现。在此，我们描述了1例在此病症中出现新的视网膜表现的病例。
观察结果
在1例患有迪乔治综合征的早产儿中观察到视网膜血管发育异常、视乳头周围、视网膜内及玻璃体出血。玻璃体出血采用玻璃体腔内注射抗血管生成药物及玻璃体切割手术治疗。眼底荧光血管造影未证实染料从发育异常的视网膜血管渗漏。
结论及意义
迪乔治综合征患者可能发生视网膜血管发育异常、视乳头周围、视网膜内及玻璃体出血。
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