USH2014 Presentations - Dr. Margaret Kenna, Phenotypes and Natural History

Delivered by Dr. Margaret Kenna at the International Symposium on Usher Syndrome.

Download the presentation slides here.

Kenna, M.1,2, Lafferty, K.3, Rehm, H.2,3, and Fulton, A1,2

1Boston Children’s Hospital, Boston, MA, USA
2Harvard Medical School, Boston, MA, USA
3Partner’s Healthcare/Personalized Genetic Medicine, Cambridge, MA, USA


Until very recently, Usher Syndrome was diagnosed in late childhood or adulthood, generally by an ophthalmologist, when a patient with hearing loss developed symptoms of vision impairment. However, with the recent introduction of two technologies, the timing and means of the diagnosis have changed. Newborn hearing screening, the first new technology now available in all 50 states and in many countries, means that babies with hearing loss are often identified in the first weeks or months of life, and often by an otolaryngologist. Additionally, because Usher Syndrome initially presents as a non-syndromic form of hearing loss in newborns and young children, clinical genetic testing, the second new technology, makes it possible to identify a definitive diagnosis in these young children long before routine ophthalmological examinations can.

The early identification of Usher Syndrome allows planning for both the hearing loss and the visual impairment, and will allow access to therapeutic interventions as they become available.

This presentation will outline the early identification of hearing loss, the process of genetic testing and counseling, phenotype-genotype correlations including balance testing, and how this leads to the development of potential interventions and treatment.