MCID: CRB159
MIFTS: 29

Cerebral Visual Impairment

Categories: Neuronal diseases, Eye 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 cortical blindness, and has symptoms including amaurosis fugax An important gene associated with Cerebral Visual Impairment is GNB1 (G Protein Subunit Beta 1). The drugs Magnesium Sulfate and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye.

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

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
2 Analgesics Phase 3
3 calcium channel blockers Phase 3
4 Central Nervous System Depressants Phase 3
5 Tocolytic Agents Phase 3
6 Anesthetics Phase 3
7 Anti-Arrhythmia Agents Phase 3
8 Peripheral Nervous System Agents Phase 3
9 Anticonvulsants Phase 3
10 Calcium, Dietary Phase 3
11 Epoetin alfa Phase 2, Phase 3,Phase 3 113427-24-0
12 Hematinics Phase 2, Phase 3,Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Study of Hypothermia Plus Magnesium Sulphate(MgSO4) in the Management of Term and Near Term Babies With Hypoxic Ischemic Encephalopathy Unknown status NCT01646619 Phase 3 Magnesium Sulphate;Placebo
2 Neuroprotective Role of Erythropoietin in Perinatal Asphyxia Completed NCT02002039 Phase 2, Phase 3 Erythropoietin
3 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3 Epoetin Alfa;Normal saline
4 Visuomotor Rehabilitation Training for Manual Task Deficits From Macular Scotomas Completed NCT01691027 Not Applicable
5 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
6 Cortical Visual Impairment and Visual Attentiveness Completed NCT00342108 Not Applicable
7 TOBY (TOtal Body hYpothermia): a Study of Treatment for Perinatal Asphyxia Completed NCT00147030 Not Applicable
8 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305 Not Applicable
9 Brain Lesions in Relation to Motor Profiles of Children With Cerebral Visual Impairment. Active, not recruiting NCT02480452

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, Cortex, Eye

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show all 35)
# 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
Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. ( 29146757 )
2017
4
Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment. ( 28941531 )
2017
5
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
6
Setting up of a cerebral visual impairment clinic for children: Challenges and future developments. ( 28300737 )
2017
7
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
8
Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution. ( 27079591 )
2016
9
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
10
A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India. ( 28208897 )
2016
11
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
12
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
13
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
14
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
15
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
16
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
17
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
18
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
19
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
20
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
2014
21
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
22
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
23
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
24
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
25
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
26
Assessment of cortical visual impairment in infants with periventricular leukomalacia: a pilot event-related FMRI study. ( 21852907 )
2011
27
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
28
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
29
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
30
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
31
Pseudo-subarachnoid hemorrhage and cortical visual impairment as the presenting sign of gliomatosis cerebri. ( 15590541 )
2004
32
Cerebral visual impairment in periventricular leukomalacia. ( 9706625 )
1998
33
Cerebral visual impairment in preterm infants with periventricular leukomalacia. ( 9436798 )
1997
34
Cerebral visual impairment in periventricular leukomalacia: MR correlation. ( 8733977 )
1996
35
Early predictors of cerebral visual impairment in infants with cystic leukomalacia. ( 8677020 )
1996

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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