Rare diseases · Sign or symptom
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
HP:0000567
What it means
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Rare diseases that can present with this36
Very common80–99%
6- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Sorsby syndrome
- Temtamy syndrome
- Upper limb defect-eye and ear abnormalities syndrome
- Uveal coloboma-cleft lip and palate-intellectual disability
Common30–79%
14- Abruzzo-Erickson syndrome
- Cat-eye syndrome
- CHARGE syndrome
- Chondrodysplasia-difference of sex development syndrome
- Focal dermal hypoplasia
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Joubert syndrome with hepatic defect
- Joubert syndrome with oculorenal defect
- Microphthalmia, Lenz type
- Microphthalmia with brain and digit anomalies
- MOMO syndrome
- Mycophenolate mofetil embryopathy
- Preaxial polydactyly-colobomata-intellectual disability syndrome
- X-linked cerebral-cerebellar-coloboma syndrome
Sometimes5–29%
16- 3C syndrome
- Acro-renal-ocular syndrome
- Aicardi syndrome
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Distal duplication 5q syndrome
- Duane retraction syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Holoprosencephaly
and 8 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
Also called: Choroid coloboma · Choroidal coloboma · Choroidoretinal coloboma · Coloboma of choroid
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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.