Genetics and treatment of Stargardt disease

Abstract

AbstractPurpose When the adenosine triphosphate (ATP)‐binding cassette (ABC) transporter gene, ABCA4 (originally named ABCR), was cloned and characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (STGD) it seemed as if just another missing link was added to the extensive table of genetic determinants of rare monogenic retinal dystrophies. Now, 14 years later, the ABCA4 gene continues to emerge as the predominant determinant of a wide variety of retinal degeneration phenotypes, such as STGD, cone‐rod dystrophy, retinitis pigmentosa, and age‐related macular degeneration.Methods A combination of genetic, molecular biology, gene‐ and small molecule therapy approaches.Results ABCA4 has caused exciting and sometimes intense discussions among ophthalmologists and geneticists, resulting in more than 300 publications during this time. In my presentation I will summarize our current knowledge of the role of ABCA4 in retinal disease and review the substantial progress in diagnostic and therapeutic applications for ABCA4‐associated disorders which most recently seemed impossible.Conclusion Although ACBA4 has proven to be a complex and difficult research and therapeutic target, I hope to convince the audience that treatment of all ABCA4‐associated disorders, and especially STGD, should be possible in the near future.