Bietti Crystalline Dystrophy (BCD) is an autosomal recessive inherited disease caused by loss-of-function mutation of CYP4V2, resulting in lipid deposits on the retina and progressive atrophy of retina and blindness. It is more common in the Chinese and Japanese populations than Caucasians.
Distinguishing yellow-white crystalline deposits in patient’s retina and cornea. BCD patients always present with vision loss and night blindness between 20 and 40 years of age and eventually progress to legal blindness between the ages of 50 and 60.
China: 1/20,000
Global: 1/67,000
No available treatment.