Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches

Bietti crystalline dystrophy (BCD), an autosomal recessive inherited retinal disorder caused by mutations in the CYP4V2 gene, has long remained therapeutically challenging. Recent advances in adeno-associated virus-based gene therapy have emerged as promising therapeutic strategies for patients with BCD. This review synthesizes current knowledge regarding the molecular genetic mechanisms underlying BCD pathogenesis and examines recent developments in diagnostic approaches and gene therapeutic interventions. We specifically analyze the clinical outcomes of three investigational gene therapy products-ZVS101e, NGGT001, and VGR-R01-focusing on their preliminary efficacy, safety profiles, and tolerability. Key parameters evaluated include dosing strategies, routes of administration, adverse event profiles, and improvements in best-corrected visual acuity. The collective evidence suggests these therapeutic candidates show potential for decelerating disease progression and enhancing visual function. Future optimization of these approaches should carefully consider administration sites and modalities, injection volumes, and disease severity at intervention. With gene replacement therapy for BCD advancing through late-stage clinical development, regulatory approval and clinical implementation may be anticipated in the near future.