Predicted protein structure variations indicate the clinical presentation of cyp4v2-related bietti crystalline dystrophy

Conclusion: This is the first cohort study of BCD in Taiwan, and we established a novel BCD severity index based on the molecular impact of different CYP4V2 variants. More severe impairment of CYP4V2 protein led to a more severe disease course with earlier progression. Our results could be helpful in identifying a therapeutic window for patients with BCD.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research