Clinicopathologic correlation of aniridia: Optical coherence tomography angiography and histopathologic observations

Abstract

Purpose: To describe optical coherence tomography angiography (OCTA) findings in a patient with aniridia and correlate with representative histopathology. Observations: 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. Conclusions and importance: 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.

Keywords

• Aniridia
• Histopathology
• OCT angiography
• Foveal hypoplasia
• PAX6