Rare diseases · Sign or symptom

Vitelliform macular lesion

HP:0007677

What it means

Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated.

Vitelliform macular lesions can be observed in Bestrophinopathies (Best vitelliform macular dystrophy and Autosomal recessive Bestrophinopathy), IMPG1 and IMPG2-related maculopathies, paraneoplastic or idiopathic vitelliform maculopathies, serous chorioretinopathy, dome-shaped maculopathy and toxic maculopathies (e.g. MEK-inhibitors induced).

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Vitelliform macular dystrophy · Vitelliform macular lesions · Vitelliform-like macular lesions

Vitelliform macular lesion

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.