Therattil Anthony, Naranjo Andrea, Hsu S Tammy, Kelly Michael P, Freedman Sharon F, Dubovy Sander R, Vajzovic Lejla
Department of Ophthalmology, Duke University, Durham, NC, USA.
Florida Lions Ocular Pathology Laboratory, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Am J Ophthalmol Case Rep. 2020 Sep 11;20:100919. doi: 10.1016/j.ajoc.2020.100919. eCollection 2020 Dec.
To describe optical coherence tomography angiography (OCTA) findings in a patient with aniridia and correlate with representative histopathology.
OCTA images of the macula of a pediatric aniridic patient, who has nystagmus and impaired vision bilaterally, demonstrate a complete absence of the foveal avascular zone (FAZ) in both the superficial and deep vascular complexes (SVC and DVC). In addition, larger superficial blood vessels were found to be abnormally diving from the SVC into the DVC. Similarly, immunofluorescence with confocal microscopy imaging of a retinal histopathology specimen from a 2 month old aniridic patient demonstrated larger vessels diving in the same manner.
This study highlights the clinical, imaging and histopathologic findings of aniridia. Supine OCTA imaging, performed during examination under anesthesia, allowed for visualization of retinal microvasculature in eyes with nystagmus. The histopathology images helped validate OCTA findings that, with further investigation, may lead to new information about the development of abnormal retinal microvasculature.
描述一名无虹膜患者的光学相干断层扫描血管造影（OCTA）结果，并与代表性组织病理学结果相关联。
一名患有眼球震颤且双眼视力受损的小儿无虹膜患者的黄斑OCTA图像显示，在浅表和深部血管复合体（SVC和DVC）中均完全没有中心凹无血管区（FAZ）。此外，发现较大的浅表血管从SVC异常潜入DVC。同样，对一名2个月大的无虹膜患者的视网膜组织病理学标本进行共聚焦显微镜免疫荧光成像，显示较大血管以同样方式潜入。
本研究突出了无虹膜的临床、影像学和组织病理学表现。在麻醉检查期间进行的仰卧位OCTA成像，能够观察到有眼球震颤的眼睛中的视网膜微血管。组织病理学图像有助于验证OCTA结果，随着进一步研究，这可能会带来有关异常视网膜微血管发育的新信息。
