These evaluations will detect retinitis pigmentosa at a presymptomatic state. From this early identification, the child who is an appropriate candidate and who has the ability to see and read lips for some 10-12 years pre-onset of the blindness, would be able to benefit from a cochlear implant. "We are especially concerned that a deaf infant who will eventually lose his or her sight not be without appropriate support or intervention," said Friedman.

A cochlear implant is a small, complex electronic device. The implant is surgically implanted under the skin behind the ear and, with the use of a highly sensitive speech processor, can provide a sense of interpretable sound to a profoundly deaf or severely hearing impaired.

Carrier screening and genetic counseling will allow parents to prepare for the educational and social needs of a child who has Usher syndrome type I and for his or her progressive loss of sight. Parents will be able to focus on communication skills that will be needed by their child.

Screening for R245X would allow additional information to be provided to individuals who will already be screened for Tay-Sachs, Gaucher and Canavan diseases as they seek to have more information about their genetic history.

In discussing the finding, Dr. Battey said, "This is a highly important discovery. When a mutation has a high carrier frequency in a population and we can identify it, basic science translates directly to clinical possibility for these children."

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Contact: Marin P. Allen, Ph.D.
allenm@ms.nidcd.nih.gov
301-496-7243
NIH/National Institute on Deafness and Other Communication Disorders
2-May-2003

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