Rare diseases · Sign or symptom
Retinal coloboma
Hole in the back of the eye
HP:0000480
What it means
A notch or cleft of the retina or choroid, located vertically below the optic disc.
Rare diseases that can present with this16
Common30–79%
5Sometimes5–29%
9- 8q24.3microdeletion syndrome
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- Joubert syndrome with ocular anomaly
- Micro syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Otodental syndrome
and 1 more in this range
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
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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.