MCID: CRB159
MIFTS: 35

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 71
Central Visual Impairment 71
Visual Cortex Disorder 71

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 71 C0234398 C3810365 C4048268

Summaries for Cerebral Visual Impairment

MalaCards based summary : Cerebral Visual Impairment, also known as cortical visual impairment, is related to chromosome 1p36 deletion syndrome and west syndrome. An important gene associated with Cerebral Visual Impairment is GNB1 (G Protein Subunit Beta 1). The drugs Bevacizumab and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotype is Apoptosis resistance.

Wikipedia : 74 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 98)
# Related Disease Score Top Affiliating Genes
1 chromosome 1p36 deletion syndrome 28.4 GNB1 ACP6
2 west syndrome 28.4 PTEN NR2F1 GNB1
3 epileptic encephalopathy, early infantile, 78 11.3
4 rab18 deficiency 11.3
5 bosch-boonstra-schaaf optic atrophy syndrome 11.3
6 epilepsy, hearing loss, and mental retardation syndrome 11.2
7 mental retardation, autosomal dominant 42 11.2
8 epileptic encephalopathy, infantile or early childhood, 1 11.2
9 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.2
10 cerebral palsy 10.4
11 strabismus 10.2
12 mechanical strabismus 10.2
13 pathologic nystagmus 10.2
14 yemenite deaf-blind hypopigmentation syndrome 10.1
15 periventricular leukomalacia 10.1
16 refractive error 10.1
17 microcephaly 10.0
18 exudative vitreoretinopathy 1 10.0
19 3-methylglutaconic aciduria, type iii 10.0
20 spastic cerebral palsy 10.0
21 encephalopathy 10.0
22 neonatal hypoxic and ischemic brain injury 10.0
23 monocular esotropia 9.9
24 alternating exotropia 9.9
25 exotropia 9.9
26 esotropia 9.9
27 hypotonia 9.9
28 autism 9.9
29 alacrima, achalasia, and mental retardation syndrome 9.9
30 hydrocephalus 9.9
31 quadriplegia 9.9
32 learning disability 9.9
33 developmental coordination disorder 9.9
34 developmental dyspraxia 9.9
35 ocular motor apraxia 9.8
36 hypomelanosis of ito 9.8
37 hydrops, lactic acidosis, and sideroblastic anemia 9.8
38 twin-to-twin transfusion syndrome 9.8
39 apraxia 9.8
40 sensorineural hearing loss 9.8
41 epilepsy 9.8
42 encephalomalacia 9.8
43 brain edema 9.8
44 retinal disease 9.8
45 gliomatosis cerebri 9.8
46 chorioretinitis 9.8
47 bacterial meningitis 9.8
48 meningitis 9.8
49 anton's syndrome 9.8
50 congenital cytomegalovirus 9.8

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.62 ACP6 PTEN

Drugs & Therapeutics for Cerebral Visual Impairment

Drugs for Cerebral Visual Impairment (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational 216974-75-3
2
Ranibizumab Approved 347396-82-1 459903
3 Endothelial Growth Factors
4 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
2 Remote Access to Care for Children With Cortical Visual Impairment and Their Families Completed NCT03957980
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 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
5 Real World Outcomes of Intravitreal Anti-vascular Endothelial Growth Factors for Neovascular Age-related Macular Degeneration in Taiwan -A 4-Year Longitudinal Studyneovascular Age-related Macular Degeneration in Taiwan -A 4-Year Longitudinal Study Completed NCT03324542 Aflibercept [Eylea]
6 iVision - Development of a Game-based Therapy for Children With Cerebral Visual Impairment Recruiting NCT04051983
7 Brain Lesions in Relation to Motor Profiles of Children With Cerebral Visual Impairment. Active, not recruiting NCT02480452
8 Factors Limiting Peripheral Reading Enrolling by invitation NCT03640130

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
Brain, Eye, Cortex, Endothelial, Testes, Occipital Lobe, Tongue

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show top 50) (show all 305)
# Title Authors PMID Year
1
Squalene Synthase Deficiency 61
32027475 2020
2
Neuroplasticity in cerebral visual impairment (CVI): Assessing functional vision and the neurophysiological correlates of dorsal stream dysfunction. 61
31655075 2020
3
Successful resolution of the ophthalmic manifestations of a falcotentorial meningioma through Cerebrospinal fluid diversion. 61
31843434 2020
4
Relationship between brain structure and Cerebral Visual Impairment in children with Cerebral Palsy: A systematic review. 61
32004872 2020
5
Bilateral cortical visual impairment resulting in Anton's syndrome. 61
31927769 2020
6
Neuroplastic reorganization in children with ocular and cerebral visual impairment. 61
31448827 2020
7
Assessment tool for visual perception deficits in cerebral visual impairment: reliability and validity. 61
31267523 2020
8
Reducing the burden of childhood cerebral visual impairment: another step forward. 61
31342511 2020
9
Assessment tool for visual perception deficits in cerebral visual impairment: development and normative data of typically developing children. 61
31267521 2020
10
Improvement in Overground Walking After Treadmill-Based Gait Training in a Child With Agenesis of the Corpus Callosum. 61
31593234 2020
11
Cortical Visual Impairment Treated by Plasmapheresis in a Child With Metronidazole-Induced Encephalopathy. 61
31834198 2019
12
Yield of comparative genomic hybridization microarray in pediatric neurology practice. 61
31872051 2019
13
Visuoperceptual profiles of children using the Flemish cerebral visual impairment questionnaire. 61
31889310 2019
14
Long-term visual outcomes following abusive head trauma with retinal hemorrhage. 61
31655114 2019
15
Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant. 61
31704229 2019
16
Autism in Children With Cerebral and Peripheral Visual Impairment: Fact or Artifact? 61
31548026 2019
17
Cerebral/Cortical Visual Impairment: A Need to Reassess Current Definitions of Visual Impairment and Blindness. 61
31548020 2019
18
Cerebral visual impairment is a major cause of profound visual impairment in children aged less than 3 years: A study from tertiary eye care center in South India. 61
31546477 2019
19
Neuroprotective strategies following perinatal hypoxia-ischemia: Taking aim at NOS. 61
30818057 2019
20
A Survey of Parents of Children With Cortical or Cerebral Visual Impairment: 2018 Follow-up. 61
31548021 2019
21
Profiling Children With Cerebral Visual Impairment Using Multiple Methods of Assessment to Aid in Differential Diagnosis. 61
31548025 2019
22
Cerebral Visual Impairment and Clinical Assessment: The European Perspective. 61
31548019 2019
23
Understanding low functioning cerebral visual impairment: An Indian context. 61
31546476 2019
24
Perspectives on Cerebral Visual Impairment. 61
31548018 2019
25
A Questionnaire Assessing What Teachers of the Visually Impaired Know About Cortical/Cerebral Vision Impairment. 61
31548023 2019
26
Predisposing Factors, Ophthalmic Manifestations, and Radiological Findings in Children With Cerebral Visual Impairment. 61
31545865 2019
27
Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder. 61
31108505 2019
28
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. 61
30928302 2019
29
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. 61
31313283 2019
30
The effect of visual support strategies on the quality of life of children with cerebral palsy and cerebral visual impairment/perceptual visual dysfunction in Nigeria: study protocol for a randomized controlled trial. 61
31291989 2019
31
Visual function and CVI in children (cerebral visual impairment): The importance of understanding and treating it. 61
31101477 2019
32
[The progress and prospect of ophthalmological research on cerebral visual impairment in children]. 61
31189277 2019
33
Final versus referral diagnosis of childhood visual impairment in an Italian tertiary low vision rehabilitation centre. 61
31187652 2019
34
Cortical Visual Impairment in Congenital Cytomegalovirus Infection. 61
31116869 2019
35
Causes of childhood low vision and blindness in New Zealand. 61
30430722 2019
36
Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives. 61
31417327 2019
37
The potential risk factors of cortical visual impairment following cerebral angiography: a retrospective study. 61
31695393 2019
38
Towards population screening for Cerebral Visual Impairment: Validity of the Five Questions and the CVI Questionnaire. 61
30913240 2019
39
Human Parechovirus 3 in Infants: Expanding Our Knowledge of Adverse Outcomes. 61
30204658 2019
40
Hemianopia and Features of Bálint Syndrome following Occipital Lobe Hemorrhage: Identification and Patient Understanding Have Aided Functional Improvement Years after Onset. 61
31019823 2019
41
Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment. 61
29232345 2018
42
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. 61
30194038 2018
43
Neuro-Ophthalmology at a Tertiary Eye Care Centre in India. 61
29135814 2018
44
Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants. 61
30078644 2018
45
Symbol Discrimination Speed in Children With Visual Impairments. 61
30073367 2018
46
Diagnostic work-up and rehabilitation of cerebral visual impairment in infancy: A case of epileptic perinatal encephalopathy due to KCNQ2-related channelopathy 61
28655139 2018
47
ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment. 61
29725862 2018
48
Cerebral visual impairment in children: Causes and associated ophthalmological problems. 61
29785989 2018
49
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature. 61
29693785 2018
50
GRIN2B-Related Neurodevelopmental Disorder 61
29851452 2018

Variations for Cerebral Visual Impairment

ClinVar genetic disease variations for Cerebral Visual Impairment:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys)SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551
2 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
3 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)SNV Pathogenic/Likely pathogenic 224715 rs752746786 1:1737942-1737942 1:1806503-1806503
4 QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)SNV Likely pathogenic 598953 rs1172486173 3:49137039-49137039 3:49099606-49099606
5 QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)SNV Likely pathogenic 598952 rs185476065 3:49137655-49137655 3:49100222-49100222
6 ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)SNV Likely pathogenic 598969 rs1569508922 X:110924496-110924496 X:111681268-111681268
7 POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln)SNV Conflicting interpretations of pathogenicity 458712 rs140079523 15:89862193-89862193 15:89318962-89318962
8 SCN1A NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile)SNV Likely benign 68638 rs121918808 2:166850674-166850674 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 8.96 PTEN GNB1
2 negative regulation of neuron projection development GO:0010977 8.62 PTEN NR2F1

Sources for Cerebral Visual Impairment

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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