What abnormalities associated with Alport syndrome?
High-frequency, sensorineural hearing loss typically begins in late childhood and ultimately develops in 70% of males with Alport syndrome by the age 40 years. Deafness ultimately develops in 80% of affected males.
A minority of females with Alport syndrome develop hearing loss. About 40% of males with Alport syndrome exhibit characteristic ocular abnormalities. Twenty percent of patients have white or yellow perimacular flecks, which increase in number with age.
Twenty percent of patients have anterior lenticonus, a protrusion of the central area of the lens into the anterior chamber, which can result in recurrent corneal erosion.
Leiomyomatosis and platelet abnormalities are occasionally seen.
