Rare diseases · Sign or symptom
Abnormal optic nerve morphology
Optic nerve issue
HP:0000587
What it means
Abnormality of the optic nerve.
The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
Rare diseases that can present with this30
Very common80–99%
4Common30–79%
10- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- GATA2 deficiency spectrum
- Hermansky-Pudlak syndrome
- Juvenile glaucoma
- Leigh syndrome
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Neovascular glaucoma
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 1B
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: Abnormality of the optic nerve · optic nerve abnormalities
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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.