Natural History and Genetic Study of Usher Syndrome: NEI


Description: The National Eye Institute (NEI) is conducting this study to explore the genetic and clinical aspects of Usher syndrome. As many as 400 participants may be enrolled in the study. Participants may undergo a number of tests including: genetic testing, eye examination, electroretinogram (ERG), as well as tests for hearing and balancing.

Trial Status: Ongoing; recruiting participants.

Partial List of Participation Criteria:

  1. 2 years of age and older
  2. documented neurosensory hearing loss and retinitis pigmentosa, and fulfill the clinical characteristics of Usher syndrome
  3. unaffected family member of someone with Usher syndrome (primarily parents and siblings)

Clinical Study Contact Information:
Patient Recruitment and Public Liaison Office
National Eye Institute (mention study identifier NCT00106743)
(800) 411-1222

Additional Information:
Natural history and genetic study of Usher syndrome listing on