Fan Jason, Venkateswaran Nandini, Fan Kenneth C, Cernichiaro Linda A, Negron Catherin I, McKeown Craig A, Berrocal Audina M
Bascom Palmer Eye Institute, University of Miami, Miami, FL, USA.
Am J Ophthalmol Case Rep. 2022 Jan 26;25:101312. doi: 10.1016/j.ajoc.2022.101312. eCollection 2022 Mar.
To report the first case of retinal astrocytic hamartoma (RAH) arising in the setting of Familial Exudative Vitreoretinopathy (FEVR).
An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. At 4 years of age, he was noted to have a solitary retinal astrocytic hamartoma in an area of anterior retinal traction which remains under observation.
This case describes the first reported instance of a retinal astrocytic hamartoma arising in the setting of FEVR. Multiple factors may have contributed to the formation of this benign tumor, including retinal dysgenesis, genetic background, or even laser photocoagulation. More case reports and/or molecular studies are required to further clarify the potential role of these insults in the pathogenesis of RAH.
报告首例发生于家族性渗出性玻璃体视网膜病变（FEVR）背景下的视网膜星形细胞瘤（RAH）。
一名3个月大的健康男性临床诊断为家族性渗出性玻璃体视网膜病变，随后证实存在卷曲蛋白4无义基因突变。荧光素血管造影显示周边无灌注后，他接受了多轮激光光凝治疗。4岁时，在视网膜前部牵引区域发现一个孤立的视网膜星形细胞瘤，目前仍在观察中。
本病例描述了首例报道的发生于FEVR背景下的视网膜星形细胞瘤。多种因素可能促成了这种良性肿瘤的形成，包括视网膜发育异常、遗传背景，甚至激光光凝。需要更多的病例报告和/或分子研究来进一步阐明这些因素在RAH发病机制中的潜在作用。
