Cai Louis, Wakabayashi Taku, Yonekawa Yoshihiro, Wasserman Barry N
Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania.
Pediatric Ophthalmology and Strabismus Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
J AAPOS. 2023 Apr;27(2):107-110. doi: 10.1016/j.jaapos.2022.12.002. Epub 2023 Feb 1.
We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal organization. Widefield fluorescein angiography showed vascular pruning and vascular arborization with leakage. Given the risk for progression to retinal detachment, laser photocoagulation was applied to areas of peripheral avascular retina. To our knowledge, this is the first detailed phenotypic analysis of anomalous retinal vasculature in this syndrome.
我们报告一例患有双特异性酪氨酸磷酸化调节激酶1A（DYRK1A）综合征的4岁女孩的视网膜病变。在外部检查中，她身材矮小、认知延迟、小头畸形，右眼有虹膜缺损。在双眼眼底检查中，发现她视网膜周边有格子样变性和无血管区，并有玻璃体膜组织覆盖。广角荧光素血管造影显示血管修剪、血管分支及渗漏。鉴于有进展为视网膜脱离的风险，对周边无血管视网膜区域进行了激光光凝治疗。据我们所知，这是该综合征异常视网膜血管的首次详细表型分析。
