Currently, there is no approved treatment available for BCD. Patients eventually become legally blind. In a BCD review paper published in 2019, the authors discussed ongoing R&D efforts of various research groups in finding a treatment for BCD:
Lipid lowering approach:
The recent investigation of Hata et al supports the possible therapeutic effect in BCD patients of intracellular free cholesterol reduction. This type of studies might provide the basis for future medical treatments of BCD. Moreover, further characterization of CYP4V2 catalytic activity and better understanding of the role of this enzyme in BCD pathogenesis may also set the basis to develop novel therapies of this disease.
Gene therapy approach:
Currently, there are over 100 clinical trials that utilize gene therapy for treating eye disorders.
ReflectionBio’s RBIO-101, a gene therapy program for treating BCD, was granted Orphan Drug Designation by the FDA. ReflectionBio is a biotech company founded and driven by a BCD patient. As the next step, ReflectionBio plans to advance BCD gene therapy into human clinical trial.
García-García, G. P., Martínez-Rubio, M., Moya-Moya, M. A., Pérez-Santonja, J. J., & Escribano, J. (2019). Current perspectives in Bietti crystalline dystrophy. Clinical ophthalmology, 13, 1379–1399.