Rare diseases · Sign or symptom
Abnormality of visual evoked potentials
HP:0000649
What it means
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent.
Rare diseases that can present with this31
Very common80–99%
9- Autosomal recessive malignant osteopetrosis
- Autosomal recessive spastic paraplegia type 44
- Cortical blindness-intellectual disability-polydactyly syndrome
- Infantile Krabbe disease
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Oculocutaneous albinism type 1
- Peroxisomal acyl-CoA oxidase deficiency
- Stargardt disease
- Xq12-q13.3 duplication syndrome
Common30–79%
13- Autosomal dominant optic atrophy plus syndrome
- Canavan disease
- Cerebrotendinous xanthomatosis
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Hermansky-Pudlak syndrome
- Late-infantile/juvenile Krabbe disease
- Metachromatic leukodystrophy
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Micro syndrome
- Mohr-Tranebjaerg syndrome
- Oculocutaneous albinism type 1A
- Pelizaeus-Merzbacher disease
- PLA2G6-related neurodegeneration, infantile-onset
Sometimes5–29%
9- Ataxia with vitamin E deficiency
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Leber hereditary optic neuropathy
- MEPAN syndrome
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- MOGS-CDG
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
Also called: Abnormal vision evoked potentials · Abnormal visual evoked potential · Abnormal visual evoked responses · Abnormal visual-evoked potentials · VEP 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.