Abstract
Purpose :
Pathogenic variants in RPGR represent a common cause of X-linked retinal degeneration and can cause severe vision loss. While a tapetal-like reflex has been demonstrated in female carriers and less commonly in affected males, a more detailed description of this feature is warranted, including evaluation of corresponding OCT findings and genotype-phenotype correlations. To address this, we report a series of patients with RPGR retinopathy who manifested a golden-yellow fundus reflex and corresponding OCT changes, and highlight the clinical, genetic, and multimodal imaging features.
Methods :
We performed a single-center retrospective review of patients with disease-causing RPGR variants from 2014-2021. Clinical data including acuity, full-field electroretinography (ffERG), color fundus images, and OCT images were collected. Of 82 total cases, 66 had both fundus and OCT images available for review. An expert examiner, who was masked to participant demographics, clinical evaluations, and pathogenic RPGR variant, assessed bilateral color fundus photos for the presence of a golden-yellow reflex and paracentral OCT B-scans for an abnormally thick hyper-reflective band in the ellipsoid zone area of the outer retina.
Results :
Of the total 66 cases, 12 (18.2%; 10 males and 2 females) had a golden-yellow fundus reflex with each demonstrating corresponding OCT outer retinal hyper-reflectivity on macular scans. Eleven out of these 12 (91.7%) had a cone-rod dystrophy (CRD) pattern of retinal dysfunction on ffERG. In addition, 11 out of the 12 (91.7%) cases had RPGR ORF15 (NM_001034853.2) variants located near the distal end of exon 15. One patient had a CRD and a variant in the middle of exon 15. A female carrier had a normal ffERG with a variant near the distal end of exon 15.
Conclusions :
We identified a golden-yellow fundus reflex and corresponding hyper-reflective changes on OCT in nearly one-fifth of patients in our study. Intriguingly, the vast majority of these patients were male, had a CRD pattern of retinal dysfunction, and had RPGR ORF15 variants near the distal end of exon 15. By characterizing these imaging features, we hope to improve both diagnostic accuracy and understanding the pathophysiology in patients with RPGR retinopathy.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.