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
Common30–79%
5The 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
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Start free with EleplanThis 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.