Tietz Syndrome

Tietz syndrome is a rare condition characterized by hearing loss, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. People with Tietz syndrome are born with white hair and very pale skin but their hair color often darkens over time; The colored part of the eye (the iris) is blue. It is caused by changes (mutations) in the MITF gene which affects the development of melanocytes. The inheritance is autosomal dominant. The goal of treatment is to improve hearing; cochlear implantation may be considered.