Stargardt Disease and Other ABCA4 Retinopathies: Ocular Genetic Studies

Stargardt disease is an inherited macular dystrophy with autosomal recessive inheritance, caused by mutations in the ABCA4 gene. It primarily affects the macular region responsible for central vision, leading to progressive central vision loss. The disease typically begins in childhood or adolescence and currently lacks a definitive and widely accepted treatment. In recent years, significant progress has been made in areas such as gene therapy, stem cell-based therapies, retinoid cycle modulators, and retinal implants. Additionally, nutritional support therapies have gained attention as a complementary approach. Notably, gene therapy studies targeting the ABCA4 gene have advanced to Phase 3 clinical trials. Furthermore, gene editing technologies such as AAV vectors and CRISPR/Cas9 show promise for preserving visual function.These advancements offer a new framework for future therapeutic strategies in Stargardt disease. This review aims to provide updated insights and share current knowledge and studies regarding the diagnosis and treatment approaches of Stargardt disease.