A CASE REPORT: EXPLORING STARGARDT DISEASE - CLINICAL FEATURES AND GENETIC INSIGHTS

Stargardt disease (SD) stands as a prominent inherited macular dystrophy affecting both adults and children, characterized by bilateral and symmetrical maculopathy with autosomal recessive transmission linked to the ABCA4 gene. We aim to present a comprehensive exploration of SD, delving into its clinical manifestations, genetic intricacies, and potential therapeutic interventions. This case report highlights a 46-year-old north African male with late-onset STGD with gradual bilateral vision decline, central macular atrophy, and yellow deposits in the perimacular region. the spectrum of SD is diverse, ranging from childhood onset to adult manifestation, often mimicking age-related maculopathy. Stargardt diseases genetic landscape is intricately governed by the ABCA4 gene, marked by over 900 variants across its 50 exons. This genetic diversity extends to dominant genes such as STGD4, ELOVL4, and PRPH2, contributing to a spectrum of retinal disorders. Therapeutic approaches for Stargardt disease involve drugs targeting the visual cycle, a modified vitamin A, and ongoing gene replacement and stem cell therapy trials This comprehensive review amalgamates clinical observations, genetic considerations, and emerging therapeutic avenues.