Karjalainen S, Teräsvirta M, Kärjä J, Kääriäinen H
Clin Genet. 1983 Oct;24(4):273-9. doi: 10.1111/j.1399-0004.1983.tb00082.x.
A family in which four out of ten siblings affected by Usher's syndrome, with progressive hearing loss, is described. Two of the siblings had hearing loss while of school age, but two others first exhibited otological symptoms in their thirties. One of the siblings had retinitis pigmentosa, diagnosed before the hearing impairment became evident. The family seems to exhibit type III Usher's syndrome with unusual manifestations.
本文描述了一个家庭，该家庭中十名兄弟姐妹中有四人患有乌舍尔综合征，伴有进行性听力丧失。其中两名兄弟姐妹在学龄期就出现了听力丧失，但另外两名在三十多岁时才首次出现耳科症状。其中一名兄弟姐妹患有色素性视网膜炎，在听力障碍明显之前就已确诊。这个家庭似乎表现出具有不寻常表现的III型乌舍尔综合征。
