Autoszomális recesszív
Caused by changes in both copies of CEP250, which encodes a centrosome and cilia-related protein used by light-sensing cells of the retina and hair cells of the inner ear.
Tünetek és jelek
Sensorineural hearing loss, often starting in childhood, and a cone-rod dystrophy that causes reduced central vision, light sensitivity and colour vision difficulties are typical. Vision and hearing problems usually progress slowly, and severity varies between families.
Mit változtat a diagnózis
Regular eye and hearing review, with hearing aids, low-vision aids and educational support as needed. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
Más néven
CRDHL2
