Open AccessUsher Deafblindnes
Author(s) -
Mehdi Khamaily,
Salma Bajjouk,
M. Bouchaar,
Mounir Belmalih,
Karim Reda,
Abdelbarre Oubaaz
Publication year - 2020
Publication title -
european journal of medical and health sciences
Language(s) - English
Resource type - Journals
ISSN - 2593-8339
DOI - 10.24018/ejmed.2020.2.4.380
Subject(s) - usher syndrome , retinitis pigmentosa , medicine , retina , retinopathy , visual impairment , audiology , ophthalmology , psychology , neuroscience , retinal , endocrinology , psychiatry , diabetes mellitus
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.
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