Rare diseases · Sign or symptom

Macular drusen

HP:0030499

What it means

Drusen localted in the macula.

Drusen (singular, 'druse') are yellow or white accumulations of extracellular material that build up external to the pigment epithelium in Bruch membrane of the eye.

Rare diseases that can present with this2

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: Lipid accumulation in macula

Macular drusen

Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.

Start free with Eleplan

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.