Fig. 3
From: Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Fundus autofluorescence (FAF), optical coherence tomography (OCT) images, and electroretinography (ERG) in patient IV.2 with ABHD12 variants. (A) The eyes of an 18-year-old woman with Snellen BCVA of 9/10 and 8/10 for the right and left eye, respectively. FAF imaging was preserved in this case. (B) On OCT, loss of the ellipsoid zone was observed in the extrafoveal area. (C) ERG showed a significant reduction in the amplitude of the scotopic and photopic recordings