耳鼻科杂志

Case Series of all three types of Ushers Syndrome of varying severity in the same family

Neha Thakur, Narendra Rai

Introduction: Ushers syndrome is an autosomal recessive disorder characterized by hearing loss and visual impairment due to retinitis pigmentosa. There are three types of Ushers syndrome with decreasing order of severity. Type 1 has onset of illness at birth with rapid progression of symptoms. Type 2 has gradual onset of symptoms with moderate hearing loss and later onset of night vision problems. Type 3 is the least severe form with onset of symptoms at late teenage.

Case Series: We report here four siblings with Ushers. The first and second child had clinical symptoms suggestive of type1 Ushers. Third child has clinical features of Type 3 Ushers. Fourth child who had presented to us was having clinical features supportive of type 2 Ushers. There was a family history of similar symptoms in their cousin brother. All the four siblings were product of consanguineous marriage. Their mother was suffering from discoid lupus erythematosus.

Conclusion: Timely diagnosis of Ushers could have decreased the morbidity of these children. Universal Screening for newborn hearing at birth will help in early detection of children with hearing loss and associated syndromes. Cochlear implantation is the only treatment in Ushers and earlier the implantation better is the prognosis. Hence in developing countries like India where genetic diagnosis is not possible most of the times due to financial constraints we can at least implement programs like hearing screening at birth.