Audiological Findings in Norrie's Disease

Abstract

11 patients with Norrie's disease are described. The disease is an X-linked recessive trait with affected male and female carriers. The patients are blind at birth or become blind in early infancy. Progressive sensorineural hearing impairment and mental retardation are often found.

Key Words:

• Norrie's disease
• Hearing loss
• Blindness
• Mental retardation
• X-linked recessive inheritance