Vitelliform maculopathy: Diverse etiologies originating from one common pathway

Surv Ophthalmol. 2023 May-Jun;68(3):361-379. doi: 10.1016/j.survophthal.2023.01.009. Epub 2023 Jan 30.

Abstract

Vitelliform lesions (VLs) are associated with a wide array of macular disorders but are the result 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 hyperreflectivity 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. Histopathological 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 summarize the nature, pathogenesis, multimodal imaging characteristics, etiologies, and natural course of vitelliform maculopathies.

Keywords: Hyperreflective subretinal material; Macular atrophy; Macular neovascularization; Vitelliform lesion; Vitelliform maculopathy.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Fluorescein Angiography / methods
  • Fundus Oculi
  • Humans
  • Retinal Pigment Epithelium / pathology
  • Tomography, Optical Coherence / methods
  • Vitelliform Macular Dystrophy* / etiology
  • Vitelliform Macular Dystrophy* / genetics