Adult-onset Foveomacular Vitelliform Dystrophy

Adult-onset foveomacular vitelliform dystrophy is one of the most common macular dystrophies, classified within the group of pattern dystrophies. The condition typically arises after the fourth decade of life and manifests with subretinal vitelliform deposits in the macula that may progressively enlarge and later undergo resorption, ultimately resulting in retinal and retinal pigment epithelium atrophy. In most patients, the course is mild; however, significant vision loss may occur in older individuals, mainly as a result of chorioretinal atrophy or the development of subretinal neovascularization. On multimodal imaging, these lesions are hyperautofluorescent. On optical coherence tomography, they exhibit a dome-shaped configuration, while electrooculography and full-field electroretinography most often remain normal, indicating focal rather than global retinal dysfunction. The adult-onset foveomacular vitelliform dystrophy phenotype may mimic or coexist with other conditions, including age-related macular degeneration, vitreomacular traction, or central serous chorioretinopathy, which complicates diagnostic evaluation. In some patients, genetic associations have been identified with mutations in PRPH2, BEST1, IMPG1, and IMPG2. Clinical variability and inconsistent terminology have often led to misdiagnoses, underscoring the need for standardized diagnostic criteria.