Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

Figure 1

The figure displays the results of ocular investigations. a) Fundus ocular examination showing slight pallor of optic disc in both eyes, associated with best corrected visual acuity (BCVA) of 20/40 in the right eye and 20/50 in the left eye. b) Optical coherence tomography (OCT) retinal nerve fiber layer showing a moderate suffering of superior and inferior axonal fibers of optic nerve in both eyes and of nasal axonal fibers in the left eye. c) Visual field testing showing reduced retinal sensitivity in the temporal-inferior sector starting from the blind spot in the right eye and a generalized reduced retinal sensitivity reaching the nasal-inferior sector towards 30° in the left eye. The pattern visual evoked potentials (picture not shown) showed normal latency and normal amplitude responses in both eyes (latencies < 100 ms; amplitude of 6.2 μV in right eye and 5.9 μV in left eye [range of normal values 5.8 – 6.2 μV]).

Back to article page