MCID: CRB159
MIFTS: 26

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 55
Cortical Visual Impairment 55 28 69
Central Visual Impairment 69
Visual Cortex Disorder 69

Characteristics:

Orphanet epidemiological data:

55
cerebral visual impairment
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 55 ORPHA447788
ICD10 via Orphanet 33 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). The drugs Hematinics and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and eye.

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hematinics Phase 3
2 Epoetin alfa Phase 3 113427-24-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3 Epoetin Alfa;Normal saline
2 Visuomotor Rehabilitation Training for Manual Task Deficits From Macular Scotomas Completed NCT01691027
3 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
4 Cortical Visual Impairment and Visual Attentiveness Completed NCT00342108 Not Applicable
5 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305 Not Applicable
6 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 28

Anatomical Context for Cerebral Visual Impairment

MalaCards organs/tissues related to Cerebral Visual Impairment:

38
Cortex, Brain, Eye

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show all 30)
# Title Authors Year
1
Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. ( 29146757 )
2017
2
Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment. ( 28941531 )
2017
3
Setting up of a cerebral visual impairment clinic for children: Challenges and future developments. ( 28300737 )
2017
4
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
5
A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India. ( 28208897 )
2016
6
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
7
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
8
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
9
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
10
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
11
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
12
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
13
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
14
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
15
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
16
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
17
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
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
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
20
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
21
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
22
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
23
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
24
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
25
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
26
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
27
Cerebral visual impairment in periventricular leukomalacia. ( 9706625 )
1998
28
Cerebral visual impairment in preterm infants with periventricular leukomalacia. ( 9436798 )
1997
29
Early predictors of cerebral visual impairment in infants with cystic leukomalacia. ( 8677020 )
1996
30
Cerebral visual impairment in periventricular leukomalacia: MR correlation. ( 8733977 )
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.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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