Multimodal imaging in autosomal recessive Stargardt's disease

Autosomal recessive Stargardt disease type 1 (STGD-1) is a common inherited retinal disorder caused by mutations in the ABCA4 gene. This case series highlights the role of multimodal imaging (MMI): fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography and fluorescein angiography in diagnosing and staging STGD-1 in three patients with varying disease severities. Imaging revealed characteristic retinal changes, including flecks and atrophic lesions, which were correlated with genotype and clinical presentation. Genotype-phenotype correlation demonstrated the influence of specific ABCA4 mutations on disease severity. MMI proved valuable in detecting subclinical changes, distinguishing disease stages and providing prognostic insights. Genetic analysis remains essential for definitive diagnosis, particularly in atypical presentations. This report emphasises the importance of integrating imaging findings with clinical and genetic data to enhance diagnostic accuracy and patient care, especially in resource-limited settings, where genetic testing may not be readily available.