ABCA4 gene

The ABCA4 gene provides instructions for making a protein crucial for eye health, particularly in the retina where light is processed. This protein helps clear away waste products generated when light is converted into visual signals. If the ABCA4 gene has mutations, it can lead to the build-up of harmful substances, causing damage to the retina and resulting in vision problems. Variations in this gene are associated with several retinal diseases, including Stargardt disease, which often causes progressive vision loss. Understanding ABCA4 helps scientists develop potential treatments for these inherited eye conditions.