Rare diseases · Sign or symptom

Abnormal macular morphology

HP:0001103

What it means

A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.

The macula includes the fovea, a much smaller region containing pigmentation which appears yellow, which is considered by many anatomists to define the macula.

Rare diseases that can present with this12

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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormality of the macula · Macula abnormality · Macular abnormality

Abnormal macular morphology

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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.