Le syndrome d’Usher: à propos d’une observation
| Autor: | Rajae Daoudi, N. Boutimzine, Chama Daoudi, S. Tachfouti, Mina Laghmari, Omar Lezrek, Samia El Haouzi, Mounir Lezrek |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Pediatrics
medicine.medical_specialty Visual acuity genetic structures Deafblindness business.industry medicine.medical_treatment Usher syndrome Pigmentary Retinopathy General Medicine Disease Cataract surgery medicine.disease eye diseases 030227 psychiatry Normal vestibular function 03 medical and health sciences 0302 clinical medicine otorhinolaryngologic diseases medicine Sensory deprivation medicine.symptom 030223 otorhinolaryngology business |
| Zdroj: | Pan African Medical Journal. 27 |
| ISSN: | 1937-8688 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|