Cone-Rod Dystrophy 20
Autoszomális recesszív
Cone-rod dystrophy 20 is caused by changes in both copies of POC1B. Changes in this gene have been reported in cone and cone-rod dystrophies.
Tünetek és jelek
Reduced central vision, sensitivity to light and poor colour vision, usually beginning in childhood or early adulthood, reflecting loss of cone cell function. The retina may look nearly normal at first. Rod function can later decline as well.
Mit változtat a diagnózis
Regular eye examinations, tinted lenses for light sensitivity and low-vision aids can help. Genetic counselling is recommended, and carrier testing can be offered to relatives. Parents are usually carriers.
Vizsgált gének
Más néven
cone-rod dystrophy caused by mutation in POC1B; cone-rod dystrophy type 20; CORD20; POC1B cone-rod dystrophy
