This literature review is devoted to the most common hereditary disease of the retina, called Stargardt disease. The work provides information on the epidemiology, molecular genetics, and pathophysiology of this disease. Clinical forms of Stargardt disease are described in details. Special attention is paid to a multimodal approach using modern visualization methods, such as retinal optical coherence tomography, autofluorescence study, which allow differential diagnostics with diseases such as retinal pattern dystrophies, autosomal dominant Stargardt-like macular dystrophies STGD3 and STGD4, neuronal ceroid lipofuscinosis. The article presents information on potential treatment methods for patients with Stargardt disease aimed at either reducing lipofuscin accumulation in retinal pigment epithelium cells or delivering the normal ABCA4 gene to the eye.
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Zhazybaev et al. (2026) studied this question.
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