Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo

Abstract

Usher syndrome (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are two phenotypically recognizable types of Usher syndrome described in the literature. Usher type 1 individual have no vestibular function and profound sensorineural hearing loss. Usher type 2 individuals have a normal vestibular function and mild-to-severe hearing loss with visual impairment that is presented later in life. We are reporting a case of 35 years old gentleman with hearing loss and visual impairment presented to the ENT clinic at the tertiary care center. Clinical evaluations as well as comprehensive testing of hearing, vestibular function, and visual function have confirmed USH. It's a rare but serious cause of hearing loss that requires comprehensive multidisciplinary evaluation in conjunction with an ophthalmology team. Further genetic, audiological, and vestibular assessments are required to help diagnose and management of specific subtypes of this syndrome.

Supplementary information: The online version contains supplementary material available at 10.1007/s12070-023-03970-4.

Keywords: Autosomal recessive; Congo democratic; Retinitis pigmentosa; Usher’s syndrome.

Fig. 1

Patient’s audiogram, a bilateral moderate to severe degree of sensoneural hearing loss. with the typical “down-sloping” configuration

Fig. 2

The patient’s Fundus photograph. (A) pale image of the optic nerve (red arrow), the fundus centered on the posterior pole showing a decrease in vessels size (black arrow). (B) retinal periphery with pigmented migrations having the appearance of bone spicules (red arrows)

Fig. 3

Audiograms characteristic of USH2 demonstrating the typical “down-sloping”