Stargardt Disease

Abstract

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 (arSTGD or STGD1) (1) it seemed as if just another missing link was added to the extensive table of genetic determinants of rare monogenic retinal dystrophies. Now, 9 yr later, the ABCA4 gene continues to emerge as the predominant determinant of a wide variety of retinal degeneration phenotypes. ABCA4 has caused exciting and sometimes intense discussions among ophthalmologists and geneticists, resulting in more than 150 publications during this time.