Cerebral visual impairment
Synonyms: Cortical visual impairment
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebral visual impairment | Cortical visual impairment |
| fr | Cécité corticale | |
| de | Zerebrale visuelle Verarbeitungsstörungen | Kortikale visuelle Verarbeitungsstörungen |
| es | Discapacidad visual cerebral | Discapacidad visual cortical |
| it | Deficit visivo cerebrale | Deficit visivo corticale |
| nl | Cerebrale visuele beperking | Corticale visuele beperking |
| pt | Incapacidade visual cerebral | |
| pl | Mózgowe uszkodzenie wzroku | Korowe uszkodzenie wzroku |
| cs | Centrální porucha zraku | Kortikální porucha zraku |
| uk | Церебральні порушення зору | Кортикальні порушення зору |
| zh | 脑视觉障碍 | 皮层视区受损 |
| tr | Serebral görme bozukluğu | Kortikal görme bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H47.6 | NTBT | attributed | validated |
| ICD-11 | 9C43 | NTBT | attributed | validated |
| MONDO | 0018649 | E | validated | |
| UMLS | C3810365 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:519343Rare ophthalmic disorder with cortical involvement
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
41 annotations · validated 2021-05-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0100021 | Cerebral palsy | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0001249 | Intellectual disability | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0002060 | Abnormal cerebral morphology | |
| HP:0030800 | Abnormal visual accommodation | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0000539 | Abnormality of refraction | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0007009 | Central nervous system degeneration | |
| HP:0002312 | Clumsiness | |
| HP:0000641 | Dysmetric saccades | |
| HP:0025315 | Exacerbated by head trauma | |
| HP:0032046 | Focal cortical dysplasia | |
| HP:0000238 | Hydrocephalus | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0012796 | Increased cup-to-disc ratio | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002140 | Ischemic stroke | |
| HP:0001287 | Meningitis | |
| HP:0000252 | Microcephaly | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0002180 | Neurodegeneration | |
| HP:0000639 | Nystagmus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0000648 | Optic atrophy | |
| HP:0000543 | Optic disc pallor | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0500049 | Retinopathy of prematurity | |
| HP:0001250 | Seizure | |
| HP:0001141 | Severely reduced visual acuity | |
| HP:0000736 | Short attention span | |
| HP:0000486 | Strabismus | |
| HP:0011450 | Unusual CNS infection | |
| HP:0001123 | Visual field defect | |
| HP:0025405 | Visual fixation instability | |
Annotation source: 31546476 [PMID]_31548019[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447788
- This record as JSON: /data/d/447788.json