Le syndrome d’Usher: à propos d’une observation

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopat...

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Detalles Bibliográficos
Autores principales: Daoudi, Chama, boutimzine, Noureddine, Haouzi, Samia El, Lezrek, Omar, Tachfouti, Samira, Lezrek, Mounir, Laghmari, Mina, Daoudi, Rajae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622840/
https://www.ncbi.nlm.nih.gov/pubmed/28979619
http://dx.doi.org/10.11604/pamj.2017.27.217.5460
Descripción
Sumario:Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

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