Rare diseases · Sign or symptom
Macular pseudocoloboma
HP:0001116
What it means
A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.
Rare diseases that can present with this4
Very common80–99%
1Common30–79%
2The 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: Coloboma of the macula · Macular coloboma
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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.