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[Usher syndrome: about a case].
Chama Daoudi1, Noureddine Boutimzine1, Samia El Haouzi1
1Université Mohammed V Souissi, Service d'Ophtalmologie A de l'Hôpital des Spécialités, Centre Hospitalier Universitaire, Rabat, Maroc.
The Pan African Medical Journal
|October 6, 2017
Summary
Usher syndrome, a genetic cause of deafblindness, was diagnosed in a 50-year-old. Cataract surgery improved vision in this Usher syndrome type 2 patient.
Area of Science:
- Ophthalmology
- Genetics
- Audiology
Background:
- Usher syndrome is a rare genetic disorder causing combined hearing and vision loss.
- It leads to deafblindness, impacting individuals from birth or early life.
Observation:
- A 50-year-old patient with congenital deafness and normal vestibular function was diagnosed.
- The patient developed pigmentary retinopathy at age 16, causing progressive vision loss.
Findings:
- The patient's clinical presentation aligned with Usher syndrome type 2, an autosomal recessive condition.
- Surgical intervention for cataracts resulted in significant visual acuity improvement.
Implications:
- This case highlights the importance of early diagnosis and management of Usher syndrome.
- Ophthalmological interventions like cataract surgery can potentially enhance visual function in affected individuals.
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