Vitelliform maculopathy: Diverse etiologies originating from one common pathway

Vitelliform lesions (VLs) are associated with a wide array of macular disorders but are the re- sult of one common pathway: retinal pigment epithelium (RPE) impairment and phagocytic dysfunction. VLs are defined by the accumulation of yellowish subretinal material. In the era of multimodal advanced retinal imaging, VLs can be further characterized by subretinal hy- perreflectivity with optical coherence tomography and hyperautofluorescence with fundus autofluorescence. VLs can be the result of genetic or acquired retinal diseases. In younger patients, VLs usually occur in the setting of Best disease. Additional genetic causes of VL include pattern dystrophy or adult-onset vitelliform macular dystrophy. In older patients, acquired VLs can be associated with a broad spectrum of etiologies, including tractional, paraneoplastic, toxic, and degenerative disorders. The main cause of visual morbidity in eyes with VLs is the onset of macular atrophy and macular neovascularization. Histopatho- logical studies have provided new insights into the location, nature, and lifecycle of the vitelliform material comprised of melanosomes, lipofuscin, melanolipofuscin, and outer segment debris located between the RPE and photoreceptor layer. Impaired phagocytosis by the RPE cells is the unifying pathway leading to VL development. We discuss and summa- rize the nature, pathogenesis, multimodal imaging characteristics, etiologies, and natural course of vitelliform maculopathies.Published by Elsevier Inc.

Automated summary

Vitelliform lesions (VLs) are a common manifestation of various macular disorders, characterized by the accumulation of yellowish subretinal material due to retinal pigment epithelium (RPE) impairment and phagocytic dysfunction. VLs can be distinguished using advanced retinal imaging techniques based on subretinal hyperreflectivity and hyperautofluorescence. Genetic or acquired retinal diseases can lead to VLs, with different causes seen in younger and older patients. Macular atrophy and neovascularization are the main causes of visual impairment in eyes with VLs. Histopathological studies have provided insights into the composition and location of the vitelliform material and the role of RPE cell dysfunction. Understanding the nature and course of vitelliform maculopathies is important for diagnosis and management.