AI Summary & Key Takeaways
AI InsightIts hereditary character is important for the early diagnosis of the syndrome, which may enable a comprehensive screening of the family members, appropriate counselling to the patients about transition of disease to offsprings, and social adaptation of patients by means of early hearing rehabilitation.
📌 3 Key Takeaways
Abstract
Usher's syndrome was considered in a 40-year-old woman who presented with complaints of visual and hearing losses and difficulty in speech. Besides routine examination of the eye, electroretinographic and audiological tests, and perimetric examinations showed findings compatible with a diagnosis of type 2 Usher's syndrome. Its hereditary character is important for the early diagnosis of the syndrome, which may enable a comprehensive screening of the family members, appropriate counselling to the patients about transition of disease to offsprings, and social adaptation of patients by means of early hearing rehabilitation.
Özet
Görme, işitme kaybı ve konuşma bozukluğu olan 40 yaşındaki kadın hastada Usher sendromu düşünüldü. Rutin göz muayenesine ek olarak yapılan elektroretinografik, perimetrik ve odyometrik incelemeler tip 2 Usher sendromu lehine bulgular ortaya koydu. Sendromun kalıtsal geçiş göstermesi erken tanı için önemlidir. Böylelikle, hem olgunun çocuklarına hastalığı geçirebileceği uyarısı ve aile taraması yapılabilir, hem de erken tanı konan olguların işitme rehabilitasyonundan yararlanarak sosyal uyumu sağlanabilir.