Rare diseases · Sign or symptom
Cerebral visual impairment
HP:0100704
What it means
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation.
Rare diseases that can present with this51
Very common80–99%
7- Alpha-N-acetylgalactosaminidase deficiency type 1
- Cortical blindness-intellectual disability-polydactyly syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Micro syndrome
- Posterior cortical atrophy
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- VPS11-related autosomal recessive hypomyelinating leukodystrophy
Common30–79%
15- Alobar holoprosencephaly
- Bilateral generalized polymicrogyria
- CDKL5-deficiency disorder
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Houge-Janssens syndrome type 2
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- Midline interhemispheric variant of holoprosencephaly
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- RNF13-related severe early-onset epileptic encephalopathy
- Semilobar holoprosencephaly
- SLC35A2-CDG
- TELO2-related intellectual disability-neurodevelopmental disorder
Sometimes5–29%
26- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- CLCN4-related X-linked intellectual disability syndrome
- COG5-CDG
- D-2-hydroxyglutaric aciduria
- D-glyceric aciduria
- DPM1-CDG
- Fumaric aciduria
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: Cortical blindness · Cortical visual impairment · Cortical/cerebral visual impairment · CVI
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.