Samuelson S, Zahn J
University of Nebraska Medical Center, Department of Ophthalmology, Omaha 68105.
Ophthalmic Paediatr Genet. 1990 Mar;11(1):71-6. doi: 10.3109/13816819009012950.
Usher's syndrome is an autosomal recessive condition of congenital sensorineural hearing loss and retinitis pigmentosa. Other abnormalities are present but inconsistently, suggesting the genetic concepts of pleiotropy and heterogeneity. Accordingly, several classifications have been suggested. Clinical findings involve the visual, auditory and vestibular systems. The identification of the carrier state would allow for more timely and accurate genetic counselling. A screening program for Usher's syndrome appears feasible. This would allow affected, deaf individuals to prepare themselves for the expected visual loss giving them a better chance for a productive, fulfilling life.
乌舍尔综合征是一种常染色体隐性先天性感音神经性听力损失和色素性视网膜炎疾病。还存在其他异常，但并不一致，这提示了基因多效性和异质性的遗传学概念。因此，有人提出了几种分类方法。临床症状涉及视觉、听觉和前庭系统。携带者状态的识别将有助于更及时、准确地进行遗传咨询。对乌舍尔综合征进行筛查项目似乎是可行的。这将使受影响的失聪个体为预期的视力丧失做好准备，从而让他们更有机会过上富有成效、充实的生活。
