Abstract
Ultra-widefield fundus autofluorescence (UW-FAF) allows for the characterization of the peripheral retinal features of vitreoretinal diseases. The purpose of this study was to examine possible genotypic/phenotypic correlations of UW-FAF patterns in patients with a variety of retinal dystrophies and retinitis pigmentosa (RP). Seventeen patients were identified who had identified mutations in retinal dystrophy or RP genes and who also had undergone UW-FAF. Mutations with genes included RPGR, RHO, PRPF31, RDS/PRPH2, USH2A, CRB1, CEP290, and RPGRIP1. Variable UW-FAF patterns including ring hyperautofluorescence, double ring hyperautofluorescence, and peripheral hypoautofluorescence were identified. Further research is needed to better characterize this technology as an imaging biomarker for genotype association in retinal dystrophies and RP.