Fig. 1
From: Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Images of selected cases of retinitis pigmentosa: RPGR (a and b), MAK (c and d), EYS (e), and PRPF31 (f). Color fundus photography (left panels), short-wave fundus autofluorescence imaging (SW-FAF, right panels), and spectral-domain optical coherence tomography scans (SD-OCT, bottom panels) were performed. Blue reflectance imaging (488 nm, excitation) of Case 14 displayed the tapetal-reflex, a radiating pattern of hyperreflectivity commonly observed in RPGR carriers (B, right panel). The observed characteristic findings of retinitis pigmentosa include bilateral widespread intraretinal pigmentation, hyperautofluorescent rings on the macula, and shortened or absent EZ line. No color fundus photography was performed for Case 21; infrared reflectance imaging was performed instead (E, left panel)