Fig. 2: Multimodal imaging composite of control (right eye only) and four affected individuals (left eye only) carrying candidate pathogenic variants in PDSS1, COQ2, COQ4 and COQ5.
From: Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Ultra-widefield fundus pseudocolor imaging shows characteristic features of retinitis pigmentosa: retinal vessels attenuation, pigmentary (bone spicule) changes in mid-periphery. Ultra-widefield fundus auto-fluorescence image demonstrates hypoautofluorescence corresponding to mid-peripheral bone spicules with a hyperautofluorescence ring at the macula delineating the border between normal (inside the ring) and abnormal retina (outside the ring). SD-OCT macula scan through the fovea shows absence of inner segment/outer segment (IS/OS) junction (red arrow) in the parafoveal region in affected individuals carrying candidate pathogenic variants in PDSS1, COQ2 and COQ5. Absence of IS/OS junction in the fovea and parafoveal region in affected individual from family 10, II:5.
