Rare diseases · Sign or symptom
Optic disc pallor
HP:0000543
What it means
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white.
Rare diseases that can present with this42
Very common80–99%
3Common30–79%
17- Alström syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Birdshot chorioretinopathy
- Cerebrotendinous xanthomatosis
- Classic pantothenate kinase-associated neurodegeneration
- Combined oxidative phosphorylation defect type 39
- Cone rod dystrophy
- Costello syndrome
- Early-onset X-linked optic atrophy
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- NARP syndrome
- Northern epilepsy
- Primary hyperoxaluria
- Retinitis pigmentosa
- Severe early-childhood-onset retinal dystrophy
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
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: Disc pallor · Pale optic disc · Pale optic discs
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.