MCID: CRB159
MIFTS: 34

Cerebral Visual Impairment

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Visual Impairment

MalaCards integrated aliases for Cerebral Visual Impairment:

Name: Cerebral Visual Impairment 58 39
Cortical Visual Impairment 58 29 6 70
Central Visual Impairment 70
Visual Cortex Disorder 70

Characteristics:

Orphanet epidemiological data:

58
cerebral visual impairment
Inheritance: Not applicable;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H47.6
Orphanet 58 ORPHA447788
UMLS 70 C0234398 C3810365 C4048268

Summaries for Cerebral Visual Impairment

MalaCards based summary : Cerebral Visual Impairment, also known as cortical visual impairment, is related to west syndrome and seizure disorder. An important gene associated with Cerebral Visual Impairment is GNB1 (G Protein Subunit Beta 1). Affiliated tissues include eye, cortex and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 73 Cortical visual impairment (CVI) is a form of visual impairment that is caused by a brain problem rather... more...

Related Diseases for Cerebral Visual Impairment

Diseases related to Cerebral Visual Impairment via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 west syndrome 29.0 PTEN GNB1 ALG13
2 seizure disorder 28.7 PTEN GNB1 ALG13
3 microcephaly 28.5 QARS1 PTEN GNB1 ALG13
4 cortical blindness 28.4 QARS1 PTEN GNB1 ALG13
5 nescav syndrome 11.7
6 developmental and epileptic encephalopathy 78 11.2
7 rab18 deficiency 11.2
8 bosch-boonstra-schaaf optic atrophy syndrome 11.2
9 cdkl5 deficiency disorder 11.1
10 developmental and epileptic encephalopathy 36 11.1
11 developmental and epileptic encephalopathy 31 11.1
12 epilepsy, hearing loss, and mental retardation syndrome 11.1
13 mental retardation, autosomal dominant 42 11.1
14 developmental and epileptic encephalopathy 55 11.1
15 developmental and epileptic encephalopathy 91 11.1
16 developmental and epileptic encephalopathy 72 11.1
17 developmental and epileptic encephalopathy 73 11.1
18 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 11.1
19 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.1
20 mitochondrial complex iv deficiency, nuclear type 7 11.1
21 cerebral palsy 10.5
22 strabismus 10.4
23 mechanical strabismus 10.4
24 pathologic nystagmus 10.3
25 periventricular leukomalacia 10.3
26 yemenite deaf-blind hypopigmentation syndrome 10.2
27 refractive error 10.2
28 encephalopathy 10.2
29 hypotonia 10.2
30 exudative vitreoretinopathy 1 10.1
31 3-methylglutaconic aciduria, type iii 10.1
32 alacrima, achalasia, and mental retardation syndrome 10.1
33 spastic cerebral palsy 10.1
34 hydrocephalus 10.1
35 neonatal hypoxic and ischemic brain injury 10.1
36 ifap syndrome 2 10.1
37 monocular esotropia 10.1
38 alternating exotropia 10.1
39 exotropia 10.1
40 esotropia 10.1
41 autism 10.0
42 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
43 quadriplegia 10.0
44 learning disability 10.0
45 ocular motor apraxia 9.9
46 subacute sclerosing panencephalitis 9.9
47 hypomelanosis of ito 9.9
48 twin-to-twin transfusion syndrome 9.9
49 apraxia 9.9
50 human cytomegalovirus infection 9.9

Graphical network of the top 20 diseases related to Cerebral Visual Impairment:



Diseases related to Cerebral Visual Impairment

Symptoms & Phenotypes for Cerebral Visual Impairment

GenomeRNAi Phenotypes related to Cerebral Visual Impairment according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 ALG13
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 PTEN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.66 PTEN
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.66 PTEN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.66 PGAP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.66 QARS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.66 PGAP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 PGAP1 PTEN QARS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.66 QARS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.66 QARS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.66 ALG13
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 PTEN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 PGAP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 PTEN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.66 PGAP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.66 PTEN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.66 PTEN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.66 ALG13 PTEN
19 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.66 ALG13

MGI Mouse Phenotypes related to Cerebral Visual Impairment:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 GNB1 PGAP1 PTEN ZFP30

Drugs & Therapeutics for Cerebral Visual Impairment

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Factors Limiting Peripheral Reading Unknown status NCT03640130
2 Brain Lesions in Relation to Motor Profiles of Children With Cerebral Visual Impairment. Unknown status NCT02480452
3 Cortical Visual Impairment and Visual Attentiveness: The Effect of Visual and Cross-Modal Environments on Children Diagnosed With Cerebral Palsy and Cortical Visual Impairment Completed NCT00342108
4 Remote Access to Care for Children With Cortical Visual Impairment and Their Families Completed NCT03957980
5 iVision - Development of a Game-based Therapy for Children With Cerebral Visual Impairment Recruiting NCT04051983

Search NIH Clinical Center for Cerebral Visual Impairment

Genetic Tests for Cerebral Visual Impairment

Genetic tests related to Cerebral Visual Impairment:

# Genetic test Affiliating Genes
1 Cortical Visual Impairment 29

Anatomical Context for Cerebral Visual Impairment

MalaCards organs/tissues related to Cerebral Visual Impairment:

40
Eye, Cortex, Brain, Occipital Lobe, Tongue

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show top 50) (show all 351)
# Title Authors PMID Year
1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
2
Causes of severe visual impairment in infants and methods of management. 61
32678353 2021
3
Measure of early vision use: initial validation with parents of children with cerebral palsy. 61
33651960 2021
4
Cortical Visual Impairment Treated by Plasmapheresis in a Child With Metronidazole-Induced Encephalopathy. 61
31834198 2021
5
Cerebral visual impairment in children: the importance of classification. 61
33017046 2021
6
What assessments are currently used to investigate and diagnose cerebral visual impairment (CVI) in children? A systematic review. 61
33368471 2021
7
Visual function subtyping in children with early-onset cerebral visual impairment. 61
33111315 2021
8
Quality of life and functional vision across pediatric eye conditions assessed using the PedEyeQ. 61
33601046 2021
9
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. 61
33170561 2021
10
Methods of visual assessment in children with cortical visual impairment. 61
33230032 2021
11
A Case of Visual Hallucinations in an Adolescent Girl With Cortical Visual Impairment: Seeing but Not Believing. 61
33174462 2021
12
Cerebral visual impairment-related vision problems in primary school children: a cross-sectional survey. 61
33533021 2021
13
Cerebral visual impairment-related vision problems in the classroom. 61
33638157 2021
14
Children With Cortical Visual Impairment and Complex Communication Needs: Identifying Gaps Between Needs and Current Practice. 61
33592150 2021
15
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. 61
33728377 2021
16
Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. 61
33341033 2021
17
[Effect of acupuncture on pattern visual evoked potential of cerebral visual impairment in children aged 3-10 years]. 61
33559440 2021
18
Ophthalmologic approach to babies with cerebral visual impairment. 61
33686821 2021
19
Improved Visual Function in a Case of Ultra-low Vision following Ischemic Encephalopathy Using Transcranial Electrical Stimulation; A Brief Report. 61
33161826 2021
20
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. 61
33299146 2020
21
Ocular Findings in Pontine Tegmental Cap Dysplasia. 61
32398424 2020
22
Visual impairment and perceptual visual disorders in children with cerebral palsy in Nigeria. 61
33268343 2020
23
Ocular evaluation and genetic test for an early Alström Syndrome diagnosis. 61
32944671 2020
24
Advances in the evaluation and management of cortical/cerebral visual impairment in children. 61
32199940 2020
25
Bilateral cortical visual impairment resulting in Anton's syndrome. 61
31927769 2020
26
Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies. 61
32770793 2020
27
Characterization of Visual Pathway Abnormalities in Infants With Congenital Zika Syndrome Using Computed Tomography and Magnetic Resonance Imaging. 61
33136667 2020
28
Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms. 61
32585155 2020
29
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation. 61
33063670 2020
30
Subacute sclerosing panencephalitis: a rare cause of acute cortical visual impairment in an adult. 61
32664798 2020
31
Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages. 61
32052259 2020
32
AAV-mediated FOXG1 gene editing in human Rett primary cells. 61
32541681 2020
33
CHARGE syndrome without colobomas: Ophthalmic findings. 61
32914532 2020
34
Final versus referral diagnosis of childhood visual impairment in an Italian tertiary low vision rehabilitation centre. 61
31187652 2020
35
Visuoperceptual profiles of children using the Flemish cerebral visual impairment questionnaire. 61
31889310 2020
36
A New Contrast Sensitivity Test for Pediatric Patients: Feasibility and Inter-Examiner Reliability in Ocular Disorders and Cerebral Visual Impairment. 61
32879786 2020
37
Questionnaires as screening tools for children with cerebral visual impairment. 61
32080840 2020
38
The neurodevelopmental spectrum of synaptic vesicle cycling disorders. 61
32738165 2020
39
SPTBN4 Disorder 61
32672909 2020
40
The inter-relationships between cerebral visual impairment, autism and intellectual disability. 61
32298709 2020
41
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome. 61
32280589 2020
42
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 61
32275123 2020
43
Abnormal Vestibular-Ocular Reflexes in Children With Cortical Visual Impairment. 61
32672437 2020
44
The impact of an eye drop booklet on distress in children when receiving eye drops. 61
32351156 2020
45
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. 61
32165008 2020
46
Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient. 61
33042249 2020
47
Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant. 61
31704229 2020
48
Cerebral visual impairment captured with a structured history inventory in extremely preterm born children aged 6.5 years. 61
32061783 2020
49
Squalene Synthase Deficiency 61
32027475 2020
50
Is being small for gestational age a risk factor for strabismus and refractive errors at 3 years of age? 61
33372444 2020

Variations for Cerebral Visual Impairment

ClinVar genetic disease variations for Cerebral Visual Impairment:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
2 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) SNV Pathogenic 224715 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
3 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) SNV Pathogenic 233777 rs876660634 GRCh37: 10:89685308-89685308
GRCh38: 10:87925551-87925551
4 ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) SNV Likely pathogenic 598969 rs1569508922 GRCh37: X:110924496-110924496
GRCh38: X:111681268-111681268
5 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) SNV Likely pathogenic 598953 rs1172486173 GRCh37: 3:49137039-49137039
GRCh38: 3:49099606-49099606
6 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) SNV Likely pathogenic 598952 rs185476065 GRCh37: 3:49137655-49137655
GRCh38: 3:49100222-49100222
7 POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) SNV Uncertain significance 458712 rs140079523 GRCh37: 15:89862193-89862193
GRCh38: 15:89318962-89318962
8 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) SNV Likely benign 68638 rs121918808 GRCh37: 2:166850674-166850674
GRCh38: 2:165994164-165994164

Expression for Cerebral Visual Impairment

Search GEO for disease gene expression data for Cerebral Visual Impairment.

Pathways for Cerebral Visual Impairment

GO Terms for Cerebral Visual Impairment

Biological processes related to Cerebral Visual Impairment according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 8.62 PTEN GNB1

Sources for Cerebral Visual Impairment

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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