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October 1971

Clinical Variation in Usher's Syndrome

Author Affiliations

Nashville, Tenn
From the departments of medicine and hearing and speech sciences, Vanderbilt University School of Medicine, Nashville, Tenn, and the Department of Medical Genetics, Indiana University School of Medicine, Bloomington.

Arch Otolaryngol. 1971;94(4):321-334. doi:10.1001/archotol.1971.00770070513007

The clinical and audiologic findings in carriers and affected matings of a large kindred containing six individuals with definite Usher's syndrome are documented. Comparisons among and within sibships indicate that the same mutant gene may show considerable variation in expressivity. Although four additional deaf individuals were found who had no retinitis pigmentosa or visual impairment, it is still not certain that the range of clinical manifestation of the gene for Usher's syndrome includes deafness with no visual symptoms. Usher's syndrome is an important diagnosis to make because even in the absence of specific therapy, knowledge of impending loss of vision could have an important influence on selection of the most appropriate educational habilitative program.