Fig. 2: Ophthalmologic findings.
From: Defining the clinical phenotype of Saul–Wilson syndrome
Clinical imaging of the ocular fundus, psychophysical testing, and electroretinography in individuals with Saul–Wilson syndrome. (a) Color fundus photography (CFP) of left eye of P1.1 obtained under anesthesia using a portable device (RetCam3) and showing mottling of the retinal pigment epithelium (yellow arrows) and an elevated lesion inferior to the optic nerve head (white arrow). Image clarity is reduced by the presence of lamellar cataract. (b) Bioptigen optical coherence tomography indicates preserved central retina including absence of macular cystic changes and normal ellipsoid zone (EZ) layer in P1.1. (c, f) CFP of the right and (i) left eye of affected individuals showing characteristic features of rod–cone dystrophies including attenuated retinal vessels, waxy pallor of optic nerve head, and midperipheral bony spicules (yellow arrowheads): (c) P2.1, (f) P7.1, (i) P10.1. (d, g) Fundus autofluorescence (FAF) images of the right eye and (j) left eye of affected individuals showing pigment deposition as hypoautofluorescence (yellow arrowheads) and a characteristic hyperautofluorescence ring (white arrowheads) typically seen in rod–cone dystrophies: (d) P2.1, (g) P:7.1, (j) P10.1. (e, h) Cirrus optical coherence tomography scans of the right eye and (k) left eye of affected individuals ranging from an almost normal scan in (e) to loss of ellipsoid zone EZ-band (yellow arrowheads) in (h) as well as presence of macular cystic changes in (h, k) (white arrowheads): (e) P2.1, (h) P7.1, (k) P10.1. (l, m) Kinetic perimetry of P2.1 and P7.1, respectively, showing different degrees of constriction and midperipheral scotomata. (n) Representative electroretinography (ERG) from P2.1 showing a reduction and delay of the scotopic responses to a greater degree than the photopic ones, confirming the presence of a rod–cone dystrophy.
