MCID: CRB159
MIFTS: 30

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 60 41
Cortical Visual Impairment 60 30 6 74
Central Visual Impairment 74
Visual Cortex Disorder 74

Characteristics:

Orphanet epidemiological data:

60
cerebral visual impairment
Inheritance: Not applicable;

Classifications:



External Ids:

ICD10 34 H47.6
ICD10 via Orphanet 35 H47.6
Orphanet 60 ORPHA447788

Summaries for Cerebral Visual Impairment

MalaCards based summary : Cerebral Visual Impairment, also known as cortical visual impairment, is related to bosch-boonstra-schaaf optic atrophy syndrome and mental retardation, autosomal recessive 42, and has symptoms including amaurosis fugax An important gene associated with Cerebral Visual Impairment is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways is PI3K-Akt signaling pathway. Affiliated tissues include brain, eye and cortex.

Wikipedia : 77 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

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



Diseases related to Cerebral Visual Impairment

Symptoms & Phenotypes for Cerebral Visual Impairment

UMLS symptoms related to Cerebral Visual Impairment:


amaurosis fugax

Drugs & Therapeutics for Cerebral Visual Impairment

Search Clinical Trials , 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 30

Anatomical Context for Cerebral Visual Impairment

MalaCards organs/tissues related to Cerebral Visual Impairment:

42
Brain, Eye, Cortex, Testes

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show top 50) (show all 105)
# Title Authors Year
1
Towards population screening for Cerebral Visual Impairment: Validity of the Five Questions and the CVI Questionnaire. ( 30913240 )
2019
2
ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment. ( 29725862 )
2018
3
Cerebral visual impairment in children: Causes and associated ophthalmological problems. ( 29785989 )
2018
4
Diagnostic work-up and rehabilitation of cerebral visual impairment in infancy: A case of epileptic perinatal encephalopathy due to KCNQ2-related channelopathy ( 28655139 )
2018
5
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. ( 29395664 )
2018
6
Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment. ( 29232345 )
2018
7
A pilot study regarding basic knowledge of "cortical visual impairment in children" among ophthalmologists. ( 29380776 )
2018
8
Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. ( 29146757 )
2017
9
Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment. ( 28941531 )
2017
10
Gross motor function in children with spastic Cerebral Palsy and Cerebral Visual Impairment: A comparison between outcomes of the original and the Cerebral Visual Impairment adapted Gross Motor Function Measure-88 (GMFM-88-CVI). ( 27771178 )
2017
11
Setting up of a cerebral visual impairment clinic for children: Challenges and future developments. ( 28300737 )
2017
12
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
13
Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution. ( 27079591 )
2016
14
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
15
A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India. ( 28208897 )
2016
16
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
17
Characterizing Visual Field Deficits in Cerebral/Cortical Visual Impairment (CVI) Using Combined Diffusion Based Imaging and Functional Retinotopic Mapping: A Case Study. ( 26941619 )
2016
18
Boy with cortical visual impairment and unilateral hemiparesis in Jeff Huntington's "Slip" (2011). ( 27772784 )
2016
19
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
20
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
21
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
22
Reliability of the modified Gross Motor Function Measure-88 (GMFM-88) for children with both Spastic Cerebral Palsy and Cerebral Visual Impairment: A preliminary study. ( 26210850 )
2015
23
Transient cortical visual impairment after video-assisted thoracic surgery: a case report. ( 26577679 )
2015
24
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
25
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
26
Abnormal white matter tractography of visual pathways detected by high-angular-resolution diffusion imaging (HARDI) corresponds to visual dysfunction in cortical/cerebral visual impairment. ( 25087644 )
2014
27
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
28
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
2014
29
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
30
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
31
Neural stem/progenitor cell transplantation for cortical visual impairment in neonatal brain injured patients. ( 24070130 )
2013
32
Separate visual systems for perception and action: a framework for understanding cortical visual impairment. ( 24237272 )
2013
33
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
34
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
35
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
36
Cortical visual impairment in children: identification, evaluation and diagnosis. ( 22805225 )
2012
37
Spatial contrast sensitivity vision loss in children with cortical visual impairment. ( 23060143 )
2012
38
Assessment of cortical visual impairment in infants with periventricular leukomalacia: a pilot event-related FMRI study. ( 21852907 )
2011
39
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
40
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
41
Cortical visual impairment in children - A new challenge for the future? ( 21713233 )
2011
42
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
43
Early visual-evoked potential acuity and future behavioral acuity in cortical visual impairment. ( 20016393 )
2010
44
Postictal cortical visual impairment: a symptom of posterior reversible encephalopathy. ( 20064749 )
2010
45
Text entry via character stroke disambiguation for an adolescent with severe motor impairment and cortical visual impairment. ( 21306068 )
2010
46
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
47
'Dorsal stream dysfunction' and 'dorsal stream dysfunction plus': a potential classification for perceptual visual impairment in the context of cerebral visual impairment? ( 19260930 )
2009
48
VEP vernier, VEP grating, and behavioral grating acuity in patients with cortical visual impairment. ( 19390471 )
2009
49
Cortical visual impairment: new directions. ( 19417710 )
2009
50
Cortical visual impairment. ( 19884281 )
2009

Variations for Cerebral Visual Impairment

ClinVar genetic disease variations for Cerebral Visual Impairment:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh37 Chromosome 2, 166850674: 166850674
2 SCN1A NM_006920.5(SCN1A): c.4801G> A (p.Val1601Ile) single nucleotide variant Likely benign rs121918808 GRCh38 Chromosome 2, 165994164: 165994164
3 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
4 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 GRCh38 Chromosome 1, 1804565: 1804565
5 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
6 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
7 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 GRCh37 Chromosome 10, 89685308: 89685308
8 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 GRCh38 Chromosome 10, 87925551: 87925551
9 POLG NM_002693.2(POLG): c.3242G> A (p.Arg1081Gln) single nucleotide variant Uncertain significance rs140079523 GRCh38 Chromosome 15, 89318962: 89318962
10 POLG NM_002693.2(POLG): c.3242G> A (p.Arg1081Gln) single nucleotide variant Uncertain significance rs140079523 GRCh37 Chromosome 15, 89862193: 89862193
11 QARS NM_005051.3(QARS): c.1430A> G (p.Tyr477Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 49137039: 49137039
12 QARS NM_005051.3(QARS): c.1430A> G (p.Tyr477Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 49099606: 49099606
13 QARS NM_005051.3(QARS): c.1132C> T (p.Arg378Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 49137655: 49137655
14 QARS NM_005051.3(QARS): c.1132C> T (p.Arg378Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 49100222: 49100222
15 ALG13 NM_001099922.2(ALG13): c.50T> A (p.Ile17Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 110924496: 110924496
16 ALG13 NM_001099922.2(ALG13): c.50T> A (p.Ile17Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 111681268: 111681268

Expression for Cerebral Visual Impairment

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

Pathways for Cerebral Visual Impairment

Pathways related to Cerebral Visual Impairment according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 ATP6V1A GNB1 PTEN

GO Terms for Cerebral Visual Impairment

Cellular components related to Cerebral Visual Impairment according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.62 ATP6V1A GNB1

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 GNB1 PTEN

Sources for Cerebral Visual Impairment

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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