1. Atypical and ultra-rare Usher syndrome: a review.
- Author
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Nolen, Rosalie M., Hufnagel, Robert B., Friedman, Thomas B., Turriff, Amy E., Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Wafa, Talah T., Griffith, Andrew J., Brooks, Brian P., and Zein, Wadih M.
- Subjects
USHER'S syndrome ,HEARING disorders ,ETIOLOGY of diseases ,ACQUISITION of manuscripts ,DYSTROPHY - Abstract
Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to "atypical" Usher syndrome presentations. This manuscript reviews the molecular etiology of Usher syndrome, highlighting rare presentations and molecular causes. Reports of "atypical" disease are summarized noting the wide discrepancy in the spectrum of phenotypic deviations from the classical presentation. Guidelines for establishing a clear nomenclature system are suggested. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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