MCID: CRB159
MIFTS: 29

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 59 40
Cortical Visual Impairment 59 29 6 73
Central Visual Impairment 73
Visual Cortex Disorder 73

Characteristics:

Orphanet epidemiological data:

59
cerebral visual impairment
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 59 ORPHA447788
ICD10 via Orphanet 34 H47.6

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). Affiliated tissues include brain, eye and cortex.

Wikipedia : 76 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Visuomotor Rehabilitation Training for Manual Task Deficits From Macular Scotomas Completed NCT01691027 Not Applicable
2 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
3 Brain Lesions in Relation to Motor Profiles of Children With Cerebral Visual Impairment. Active, not recruiting NCT02480452
4 Peripheral Reading Enrolling by invitation NCT03640130 Not Applicable

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:

41
Brain, Eye, Cortex, Testes

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show top 50) (show all 104)
# Title Authors Year
1
ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment. ( 29725862 )
2018
2
Cerebral visual impairment in children: Causes and associated ophthalmological problems. ( 29785989 )
2018
3
Diagnostic work-up and rehabilitation of cerebral visual impairment in infancy: A case of epileptic perinatal encephalopathy due to KCNQ2-related channelopathy ( 28655139 )
2018
4
Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment. ( 29232345 )
2018
5
A pilot study regarding basic knowledge of "cortical visual impairment in children" among ophthalmologists. ( 29380776 )
2018
6
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. ( 29395664 )
2018
7
Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. ( 29146757 )
2017
8
Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment. ( 28941531 )
2017
9
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
10
Setting up of a cerebral visual impairment clinic for children: Challenges and future developments. ( 28300737 )
2017
11
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
12
Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution. ( 27079591 )
2016
13
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
14
A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India. ( 28208897 )
2016
15
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
16
Characterizing Visual Field Deficits in Cerebral/Cortical Visual Impairment (CVI) Using Combined Diffusion Based Imaging and Functional Retinotopic Mapping: A Case Study. ( 26941619 )
2016
17
Boy with cortical visual impairment and unilateral hemiparesis in Jeff Huntington's "Slip" (2011). ( 27772784 )
2016
18
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
19
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
20
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
21
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
22
Transient cortical visual impairment after video-assisted thoracic surgery: a case report. ( 26577679 )
2015
23
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
24
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
25
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
26
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
27
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
2014
28
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
29
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
30
Neural stem/progenitor cell transplantation for cortical visual impairment in neonatal brain injured patients. ( 24070130 )
2013
31
Separate visual systems for perception and action: a framework for understanding cortical visual impairment. ( 24237272 )
2013
32
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
33
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
34
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
35
Cortical visual impairment in children: identification, evaluation and diagnosis. ( 22805225 )
2012
36
Spatial contrast sensitivity vision loss in children with cortical visual impairment. ( 23060143 )
2012
37
Assessment of cortical visual impairment in infants with periventricular leukomalacia: a pilot event-related FMRI study. ( 21852907 )
2011
38
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
39
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
40
Cortical visual impairment in children - A new challenge for the future? ( 21713233 )
2011
41
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
42
Early visual-evoked potential acuity and future behavioral acuity in cortical visual impairment. ( 20016393 )
2010
43
Postictal cortical visual impairment: a symptom of posterior reversible encephalopathy. ( 20064749 )
2010
44
Text entry via character stroke disambiguation for an adolescent with severe motor impairment and cortical visual impairment. ( 21306068 )
2010
45
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
46
'Dorsal stream dysfunction' and 'dorsal stream dysfunction plus': a potential classification for perceptual visual impairment in the context of cerebral visual impairment? ( 19260930 )
2009
47
VEP vernier, VEP grating, and behavioral grating acuity in patients with cortical visual impairment. ( 19390471 )
2009
48
Cortical visual impairment: new directions. ( 19417710 )
2009
49
Cortical visual impairment. ( 19884281 )
2009
50
Cortical visual impairment in hypomelanosis of Ito. ( 18705622 )
2008

Variations for Cerebral Visual Impairment

ClinVar genetic disease variations for Cerebral Visual Impairment:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
2 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh38 Chromosome 1, 1804565: 1804565
3 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
4 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503

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

Sources for Cerebral Visual Impairment

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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