Year: 2020
Type: article
Study design: Case Report
Abstract: Pigmentary retinopathy refers to a group of inherited degenerative diseases of the retina, which primarily affects the photoreceptor cells in the retina. The association with congenital hearing loss defines Usher syndrome. Usher syndrome is a rare pathology of autosomal recessive transmission with a double sensory impairment (auditory and visual). We report the observation of a 12-year-old patient from a consanguineous marriage with congenital deafness, normal vestibular function and pigmentary retinopathy composing type 2 of Usher syndrome.
Institution: Hôpital Universitaire International Cheikh Khalifa
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4240431331