Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome

Purpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018. Results: The mean age of the subjects was 24.2 ± 7.1 years, of which 5 (38.5%) subjects were male and 8 (61.5%) were female. The mean best-corrected visual acuity ranged from counting fingers to 20/40, with a mean of 20/250 (1.10 ± 0.69 logarithm of the minimum angle of resolution). Dyschromatopsia was present in all patients (100%). There was a severe decrease in the average peripapillary retinal nerve fiber layer and macular ganglion cell–inner plexiform layer thicknesses (54.7 ± 6.5 and 51.9 ± 4.8 µm, respectively). Optical coherence tomography angiography showed significantly lower whole-image, inside disk, and peripapillary vessel densities in the patients with Wolfram syndrome than in the healthy controls (p