Vitelliform subretinal deposits: shared pathogenesis and clinical diversity

Abstract

Since its initial description, Best vitelliform macular dystrophy has been strongly linked to characteristic retinal lesions—subretinal yellowish accumulations, with a hyperreflective structure on optical coherence tomography, situated above the retinal pigment epithelium layer. However, research on this topic remains scarce. It is now recognized that, within the common pathophysiological mechanism of vitelliform lesion formation, this process may contribute to the pathogenesis of a broad spectrum of both genetic and acquired conditions.The purpose of this review is to update our understanding of genetically determined and acquired retinal diseases associated with the formation of such lesions.Materials and methods. analysis of scientific publications from databases including PubMed, ScienceDirect, and Cyberleninka was conducted. The review encompasses 16 studies, predominantly from the past decade.Results. Advances in instrumental and genetic diagnostics have revealed that vitelliform subretinal changes are not exclusive to Best disease but serve as another biomarker, indicating disruption in the metabolism of outer retinal layers. It is hypothesized that, irrespective of etiology, the primary triggering factor for lesion formation is the disjunction of outer segments of photoreceptors and impairment of phagocytic function in retinal pigment epithelial cells. This article presents a contemporary perspective on the presumed etiology and pathophysiology of vitelliform lesions, alongside clinical characteristics, manifestations, and prognosis of diseases associated with this phenomenon. Diseases with identified genetic mutations in the BEST1 gene (Bestrophinopathies) and PRPH2, as well as common acquired conditions like age-related macular degeneration and vitreoretinal traction syndrome, are discussed.Conclusions. The provided clinical characteristics, supported by multimodal visualization, are expected to aid in differential diagnosis and prognostication of the disease course.