Fig. 2
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.1 with ABHD12 variants. (A) The eyes of a 25-year-old man with Snellen best-corrected visual acuity (BCVA) of 2/10. Fundus autofluorescence imaging showed typical ring-shaped macular alterations. (B) OCT showed preservation of the outer retinal layers in the fovea with outer retinal atrophy outside fovea. (C) ERG revealed a significant reduction in the amplitude of the scotopic and photopic recordings