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September 1983

Usher's SyndromeOphthalmic and Neuro-otologic Findings Suggesting Genetic Heterogeneity

Author Affiliations

From the Departments of Ophthalmology (Dr Fishman) and Otolaryngology-Head and Neck Surgery (Drs Kumar, Joseph, and Torok), and the Epidemiology-Biometry Program (Dr Anderson), University of Illinois Eye and Ear Infirmary and School of Public Health, Chicago.

Arch Ophthalmol. 1983;101(9):1367-1374. doi:10.1001/archopht.1983.01040020369005

• The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.