Davenport S L, O'Nuallain S, Omenn G S, Wilkus R J
Pediatrics. 1978 Oct;62(4):578-83.
Retinitis pigmentosa (RP) and congenital deafness comprise the autosomal recessive Usher syndrome. The four affected siblings discussed here have audiometric curves characteristic of the 10% of patients with the syndrome who are not profoundly deaf. The oldest already has RP. Even though the younger three siblings have no visual symptoms, they do have auditory signs of the syndrome; they almost certainly will develop RP and become deaf-blind adults. Electroretinography indicates that the second oldest boy has early evidence of rod dysfunction. Special audiometric tests and electronystagmographic results support previous reports of a peripheral rather than central auditory lesion. The heterozygote parents show unilateral high-frequency hearing losses with normal retinal and vestibular function.
色素性视网膜炎（RP）和先天性耳聋构成常染色体隐性遗传性Usher综合征。这里讨论的4名患病兄弟姐妹的听力曲线具有该综合征10%未完全失聪患者的特征。最年长的已经患有色素性视网膜炎。尽管年幼的3名兄弟姐妹没有视觉症状，但他们确实有该综合征的听觉体征；几乎可以肯定他们会患上色素性视网膜炎并成为失聪失明的成年人。视网膜电图显示，第二大的男孩有早期视杆细胞功能障碍的迹象。特殊听力测试和眼震电图结果支持先前关于外周而非中枢听觉病变的报道。杂合子父母表现出单侧高频听力损失，视网膜和前庭功能正常。
