Twenty years of audiology in a patient with Norrie disease

C Halpin, K Sims - International journal of pediatric otorhinolaryngology, 2008 - Elsevier
OBJECTIVE: To describe disease progression and treatment outcomes over a 20-year
period (ages 5–25) in a young man with Norrie disease (occuloacousticocerebral
dysplasia), ND; OMIM# 310600. Affected individuals are born blind and develop progressive
sensory loss with onset in adolescence. This disease is X-linked and has been associated
with mutations of the NDP gene (Xp11. 4). METHODS: The patient was followed using
repeated audiograms, as well as reports of educational progress and hearing aid use. The …