Rare diseases · Sign or symptom
Optic nerve hypoplasia
HP:0000609
What it means
Underdevelopment of the optic nerve.
Double ring sign of optic nerve head is a characteristic fundus finding in cases with optic nerve head hypoplasia.
Rare diseases that can present with this40
Very common80–99%
6Common30–79%
4Sometimes5–29%
26- 19p13.13microdeletion syndrome
- 5q14.3microdeletion syndrome
- 8q24.3microdeletion syndrome
- Cerebello-oculo-facio-genital syndrome
- Cerebral visual impairment
- Charcot-Marie-Tooth disease type 1F
- Congenital fibrosis of extraocular muscles
- Congenital muscular dystrophy with cerebellar involvement
and 18 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: Double ring sign · Hypoplastic optic nerves · Underdeveloped optic nerves
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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.