Ophthalmological and otological problems in Turner syndrome

Abstract

Ocular abnormalities are common in Turner syndrome (TS). They include epicanthal folds, ptosis, and hypertelorism. Red–green color deficiency is also more common in TS. Non-familial strabismus and hyperopia occur in 25–25% of TS children. To prevent visual loss, children with TS should be evaluated by a pediatric ophthalmologist at 12–18 months of age. Hearing problems and ear malfunctions are also common in TS and correlate with the karyotype. As a result of the frequent otitis media, conductive hearing loss is common in girls with TS. Sensorineural hearing loss is also common and may occur as early as 6 years of age. It is usually manifest by a sensorineural dip in the 1.5–2 kHz region and/or high frequency loss (above 8 kHz). By middle age, the hearing deficit often has serious professional and social consequences and a quarter of the TS women will require hearing aids. Otitis media has to be treated aggressively. Currently the only possible intervention to reduce hearing loss in women with TS remains the assiduous treatment of ENT problems in childhood. Growth hormone treatment as well as estrogen treatment has no effect on the progression.