Abstract
The co-occurrence of Stargardt disease, hereditary macular dystrophy, and advanced AIDS is a very rare association. The intersection of these two conditions raises important clinical considerations, particularly in differentiating retinal changes induced by macular dystrophy from those associated with human immunodeficiency virus (HIV) infection or antiretroviral therapy (ART). In this case, a 54-year-old woman with a history of advanced HIV presented with severe visual impairment, with finger-counting acuity in both eyes. Ophthalmic examination revealed extensive bilateral retinal atrophy involving the posterior pole and mid-peripheral retina, along with macular pigmentary migration lesions. Imaging studies, including autofluorescence and fluorescein angiography, demonstrated a centrally hyperfluorescent area and a large hypofluorescent zone with surrounding hyperfluorescence. Optical coherence tomography (OCT) confirmed abnormal hyper-reflectivity in the outer retinal layers and an enlarged foveal depression. Genetic testing confirmed two biallelic pathogenic variants in the ABCA4 gene, validating the diagnosis of Stargardt disease. The patient was also tested for systemic infections, such as syphilis and toxoplasmosis, to rule out opportunistic ocular infections associated with HIV. Her management was tailored to address both her retinal dystrophy and her immunosuppressive state. This case underscores the need for regular ophthalmological monitoring in patients with hereditary retinal dystrophies and HIV, particularly those on ART. Further research is warranted to explore the impact of HIV and its treatments on the progression of macular dystrophies like Stargardt disease.