Ana Untaroiu, Linda M Reis, Brian P Higgins, Ashleigh Walesa, Serena Zacharias, Danica Nikezic, Deborah M Costakos, Joseph Carroll, Elena V Semina
PURPOSE: Axenfeld-Rieger syndrome (ARS) is characterized by ocular anomalies including posterior embryotoxon, iridocorneal adhesions, corectopia/iris hypoplasia, and developmental glaucoma. Although anterior segment defects and glaucoma contribute to decreased visual acuity, the role of potential posterior segment abnormalities has not been explored. We used high-resolution retinal imaging to test the hypothesis that individuals with ARS have posterior segment pathology. METHODS: Three individuals with FOXC1-ARS and 10 with PITX2-ARS completed slit-lamp and fundus photography, optical coherence tomography (OCT), OCT angiography, and adaptive optics scanning light ophthalmoscopy (AOSLO)...
April 1, 2024: Investigative Ophthalmology & Visual Science