Rare diseases · Sign or symptom
Abnormal electroretinogram
HP:0000512
What it means
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
Rare diseases that can present with this33
Very common80–99%
16- Åland Islands eye disease
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Choroideremia
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Oligocone trichromacy
- Peroxisomal acyl-CoA oxidase deficiency
- Progressive cone dystrophy
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinitis pigmentosa
- Usher syndrome
- Usher syndrome type 1
- Usher syndrome type 2
- Usher syndrome type 3
- X-linked retinoschisis
Common30–79%
7- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Bardet-Biedl syndrome
- Congenital fibrosis of extraocular muscles
- GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Leber congenital amaurosis
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Maternal uniparental disomy of chromosome 6 syndrome
Sometimes5–29%
10- Acute zonal occult outer retinopathy
- Blue cone monochromatism
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Cockayne syndrome
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Leber hereditary optic neuropathy
- Mucolipidosis type IV
- Neurofibromatosis type 1
and 2 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 electroretinography · Abnormal ERG · ERG abnormal
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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.