Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome

Abstract

We report a carrier of Usher syndrome type I with retinitis pigmentosa sine pigmento. A 71-year-old male was referred for further evaluation of severe, progressive, painless vision loss in both eyes over the course of four years. He had bilateral sensorineural hearing loss. Upon a comprehensive examination, his best-corrected visual acuity was 20/100 in the right eye and 20/40 in the left eye. He had an unremarkable anterior segment examination and normal intraocular pressures in both eyes. Upon fundus examination, the patient had pale discs, optic disc cupping, and multiple scattered drusen in the macula and at the midperiphery of both eyes. Optical coherence tomography showed retinal nerve fiber layer thinning in all quadrants. The visual field was severely constricted in both eyes. A comprehensive workup for infectious and inflammatory causes, as well as a brain MRI, was unremarkable. Sequencing analysis showed that he carried a heterozygous pathogenic mutation, USH1C c.672C>A (p.Cys224*) variant. Usher syndrome is a rare genetic disease characterized by hearing loss and retinitis pigmentosa. Our case suggests that patients and carriers of Usher syndrome may have a phenotype compatible with retinitis pigmentosa sine pigmento.