Stargardt disease due to ABCA4 mutation in a young adult: Case report and current alternatives for optical and medical treatments

Abstract

A patient with low vision has been followed by the optometry, ophthalmology, and genetics services since the age of 9, with a diagnosis of Stargardt disease. During follow-up, multiple tests have been performed: ocular angiography, genetic analysis, and visual evoked potential studies. The patient presents with a disease compatible with macular dystrophy, associated with the ABCA4 gene, which is slowly progressive and currently irreversible, with no effective treatment available. The patient is currently managed for low vision and has visual aids that allow them to function in daily life and develop professionally. The focus on low vision management in patients with diseases that irreversibly affect vision is of great importance to ensure these patients can achieve proper development in society.