Vitelliform

Vitelliform is a medical term used to describe a lesion that resembles an egg yolk in color and appearance. The word derives from the Latin vitellus, meaning “egg yolk,” with the suffix -form indicating a shape or form. In ophthalmology, vitelliform lesions are most closely associated with vitelliform macular dystrophies, particularly Best disease (juvenile vitelliform macular dystrophy).

Clinically, a vitelliform lesion appears as a yellow to golden, well-demarcated subretinal deposit at the macula. The condition characteristically progresses through a series of stages: a pre-vitelliform phase, a distinct vitelliform stage, a pseudohypopyon phase in which material shifts within the lesion, a vitelliruptive or scrambled-egg phase, and, in some eyes, an atrophic phase with loss of central vision. Imaging and examination may reveal a lipofuscin-rich subretinal material between the retinal pigment epithelium and photoreceptors. The presentation and course can vary, even among members of the same family.

Genetically, vitelliform macular dystrophies often follow an autosomal dominant pattern, with Best disease most commonly linked to mutations in the BEST1 gene. Affected individuals typically present in childhood or adolescence, though milder forms or related dystrophies can appear later.

Management focuses on monitoring visual function and treating complications, such as choroidal neovascularization if it arises. There is no cure for the underlying dystrophy, but low-vision aids and, when present, interventions for complications can help maintain vision. The term vitelliform serves as a descriptive label for the characteristic egg-yolk–like macular lesion seen in these conditions.