MCID: CRB159
MIFTS: 31

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 56
Cortical Visual Impairment 56 29 69
Central Visual Impairment 69
Visual Cortex Disorder 69

Characteristics:

Orphanet epidemiological data:

56
cerebral visual impairment
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 56 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 dominant 42, and has symptoms including amaurosis fugax An important gene associated with Cerebral Visual Impairment is GNB1 (G Protein Subunit Beta 1). The drugs Donepezil and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes.

Related Diseases for Cerebral Visual Impairment

Diseases related to Cerebral Visual Impairment via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 bosch-boonstra-schaaf optic atrophy syndrome 10.9
2 mental retardation, autosomal dominant 42 10.8
3 mental retardation, autosomal recessive 42 10.8
4 epilepsy, hearing loss, and mental retardation syndrome 10.8
5 cortical blindness 10.8
6 cerebritis 10.3
7 cerebral palsy 9.9
8 iris hypoplasia 9.9 GNB1 NR2F1
9 leukomalacia 9.9
10 spastic cerebral palsy 9.8
11 periventricular leukomalacia 9.8
12 spasticity 9.8
13 strabismus 9.6
14 pancreatitis 9.6
15 intellectual disability 9.6
16 igg4-related sclerosing cholangitis 7.6 GNB1 KCTD19 NR2F1 PGAP1 ZFP30

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 top 50) (show all 136)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4,Phase 1 120014-06-4 3152
2
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
3
Ezogabine Approved Phase 4,Phase 3 150812-12-7 121892
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Protective Agents Phase 4,Early Phase 1
6 Cholinergic Agents Phase 4,Phase 3,Phase 1
7 Anticonvulsants Phase 4,Phase 3
8 Cholinesterase Inhibitors Phase 4,Phase 1
9 Neuroprotective Agents Phase 4
10 Nootropic Agents Phase 4,Phase 1
11
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
12
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
13
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
14
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Etoposide Approved Phase 3 33419-42-0 36462
18
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
19
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
20
Mesna Approved Phase 3 3375-50-6 598
21
Doxil Approved June 1999 Phase 3 31703
22 Epoetin alfa Phase 3,Phase 2 113427-24-0
23 Hematinics Phase 3,Phase 2
24 Respiratory System Agents Phase 3
25 Adjuvants, Anesthesia Phase 3
26 Muscarinic Antagonists Phase 3
27 Cholinergic Antagonists Phase 3
28 Mydriatics Phase 3,Early Phase 1
29 Anesthetics Phase 3
30 Parasympatholytics Phase 3
31 Anti-Arrhythmia Agents Phase 3
32 Anti-Asthmatic Agents Phase 3
33 Peripheral Nervous System Agents Phase 3
34 Autonomic Agents Phase 3
35 Bronchodilator Agents Phase 3
36 Antiparkinson Agents Phase 3
37 Alkylating Agents Phase 3
38 Immunosuppressive Agents Phase 3
39 Antirheumatic Agents Phase 3
40 Antimitotic Agents Phase 3
41 topoisomerase I inhibitors Phase 3
42 Topoisomerase Inhibitors Phase 3
43 Anti-Bacterial Agents Phase 3
44 Etoposide phosphate Phase 3
45 Antibiotics, Antitubercular Phase 3
46 Antineoplastic Agents, Phytogenic Phase 3
47
Bevacizumab Approved, Investigational Phase 2 216974-75-3
48
Darbepoetin alfa Approved, Investigational Phase 2 11096-26-7, 209810-58-2
49
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
50
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903

Interventional clinical trials:

(show top 50) (show all 133)

id Name Status NCT ID Phase Drugs
1 Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human The Effect of Donepezil on Perceptual Learning in Adult Amblyopia Recruiting NCT03109314 Phase 4 Donepezil
2 Cholinesterase Inhibitors to Slow Progression of Visual Hallucinations in Parkinson&Apos;s Disease Recruiting NCT01856738 Phase 4 Rivastigmine;Placebo (for rivastigmine)
3 Functional Vision in TBI Terminated NCT01214070 Phase 4
4 An Open Label Study to Evaluate the Effects of Ezogabine/Retigabine Added to Existing Anti-epileptic Drug(s) on Urinary Voiding Function in Subjects With Partial Onset Seizures Terminated NCT01607346 Phase 4 ezogabine/retigabine
5 Static and Dynamic Postural Stability in Cerebral Palsy Children Completed NCT01799304 Phase 3
6 Evaluation of VisionQuest 20/20, a Visual Acuity Testing Software Completed NCT00366756 Phase 3
7 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3 Atropine
8 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
9 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3 Epoetin Alfa;Normal saline
10 Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine + Topotecan;Vincristine + Carboplatin + Etoposide;Vincristine + Cyclophosphamide + Doxorubicin;Vincristine+Carboplatin+Etoposide
11 Open-Label Extension Study of the Phase 3 VRX-RET-E22-302 Double-Blind Trial. 115097 Active, not recruiting NCT00310388 Phase 3 Retigabine (INN), Ezogabine (USAN)
12 Neuromonitoring in Patients During Aortic Valve Replacement Enrolling by invitation NCT02697786 Phase 3
13 Optimizing (Longer, Deeper) Cooling for Neonatal Hypoxic-Ischemic Encephalopathy(HIE) Terminated NCT01192776 Phase 3
14 Intravitreal Bevacizumab for Non-Arteritic Anterior Ischemic Optic Neuropathy Unknown status NCT00813059 Phase 2 Intra-vitreal injection of bevacizumab (1.25mg/0.05ml)
15 Darbepoetin Administration to Preterm Infants Unknown status NCT00334737 Phase 2 darbepoetin alfa;erythropoietin;sham injection
16 Proprioception Testing in Persons With Sensorimotor Impairment Unknown status NCT01974635 Phase 1, Phase 2
17 Effectiveness of Rehabilitation on the Recovery of Patients Post Right Stroke With Unilateral Spatial Neglect Unknown status NCT00305513 Phase 2
18 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2
19 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
20 Comparison of PET Amyloid Imaging in Japanese and Western Subjects Completed NCT02813070 Phase 2 [18F] Flutemetamol
21 Brain Uptake and Safety With Probable Alzheimer's Disease, Amnestic Mild Cognitive Impairment and Healthy Volunteers Completed NCT00785759 Phase 2 AH110690 (18F) Injection
22 Does Erythropoietin Improve Outcome in Very Preterm Infants? Completed NCT00413946 Phase 2 Recombinant human Erythropoietin;saline
23 An Active Approach to Treat Amblyopia: Perceptual Learning and Video Games Recruiting NCT01115283 Phase 1, Phase 2
24 AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis Recruiting NCT01414985 Phase 1, Phase 2
25 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Recruiting NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
26 Assessment of Clemastine Fumarate as a Remyelinating Agent in Acute Optic Neuritis (ReCOVER) Recruiting NCT02521311 Phase 2 Clemastine;Placebo
27 A Prospective Study of the Impact of Hippocampal Avoidance During Whole Brain Radiotherapy on Neurocognitive Function Decline Recruiting NCT02504788 Phase 2
28 Neurocognitive Impact and Dose-Effect Relationship of Hippocampal Avoidance During Whole Brain Radiotherapy Plus Simultaneous Integrated Boost - A Prospective Follow-up Study Recruiting NCT03223675 Phase 2
29 The Efficacy and Safety of a Selective Estrogen Receptor Beta Agonist (LY500307) for Negative Symptoms and Cognitive Impairment Associated With Schizophrenia Recruiting NCT01874756 Phase 2 LY500307 150mg;LY500307 75mg;Placebo
30 Nitisinone for Type 1B Oculocutaneous Albinism Active, not recruiting NCT01838655 Phase 1, Phase 2 Nitisinone (NTBC)
31 Magnetic Brain Stimulation in the Treatment of Mild Cognitive Impairment Enrolling by invitation NCT02420522 Phase 2
32 High-Dose Erythropoietin in Extremely Premature Infants to Prevent/Attenuate Brain Injury: A Phase II Study Terminated NCT00589953 Phase 2 Erythropoietin;Saline placebo
33 Visual Cortex Stimulation in Patients With Amblyopia Completed NCT00097162 Phase 1
34 Phase I Study of West Nile Virus Vaccine Completed NCT00300417 Phase 1 VRC-WNVDNA020-00-VP
35 Treatment of Residual Amblyopia With Donepezil Recruiting NCT01584076 Phase 1 Donepezil
36 Enhancing Spatial Navigation Using Non-Invasive Brain Stimulation Active, not recruiting NCT01958437 Phase 1
37 Training the Brain With a Robotic Device for Balance Recovery Not yet recruiting NCT02765425 Phase 1
38 Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1
39 Comparison of Efficacy of Two Groups of Glaucoma Drops (Xalatan vs.Cosopt) in Reducing Eye Pressure Following Laser (SLT)Treatment in the Management of Glaucoma. Unknown status NCT00440336 Cosopt;Xalatan
40 The Stroke Vision App: A Screening Tool for Visual Stroke Unknown status NCT02539381
41 Memory Aid - Working Memory Training in Patients With Mild Cognitive Impairment. Unknown status NCT01991405
42 Pain Inhibition in Patients With Rheumatoid Arthritis and Central Sensitivity Syndromes Unknown status NCT01154647 citalopram;1 ml 0.9 % NaCl
43 Effects of rTMS on the Cognition of Elderly With Mild Memory Complaints Unknown status NCT01292382
44 Vision Screening for the Detection of Amblyopia Unknown status NCT01430247
45 Evaluation of Refractive Status and Ophthalmological Problems of Prematurity Completed NCT01045616
46 Cortical Visual Impairment and Visual Attentiveness Completed NCT00342108
47 Regional Rates of Cerebral Protein Synthesis: Effects of Sleep and Memory Consolidation Completed NCT00884702
48 To Research the Relation Between Neonatal Morbidities and Poor Outcome in Preterm Infants Completed NCT03104946
49 Magnetic Resonance Imaging to Detect Brain Damage in Patients With Multiple Sclerosis Completed NCT00099307
50 Visual Dysfunction in Mild Traumatic Brain Injury (MTBI): A Comparison Group Study Completed NCT00671450

Search NIH Clinical Center for Cerebral Visual Impairment

Genetic Tests for Cerebral Visual Impairment

Genetic tests related to Cerebral Visual Impairment:

id Genetic test Affiliating Genes
1 Cortical Visual Impairment 29

Anatomical Context for Cerebral Visual Impairment

MalaCards organs/tissues related to Cerebral Visual Impairment:

39
Brain, Eye, Testes, Cortex, Bone, Liver

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show all 29)
id Title Authors Year
1
Disentangling How the Brain is "Wired" in Cortical (Cerebral) Visual Impairment. ( 28941531 )
2017
2
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
3
Setting up of a cerebral visual impairment clinic for children: Challenges and future developments. ( 28300737 )
2017
4
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
5
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
6
A Validation of an Examination Protocol for Cerebral Visual Impairment Among Children in a Clinical Population in India. ( 28208897 )
2016
7
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
8
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
9
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
10
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
11
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
12
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
13
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
14
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
15
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
16
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
2014
17
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
18
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
19
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
20
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
21
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
22
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
23
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
24
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
25
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
26
Cerebral visual impairment in periventricular leukomalacia. ( 9706625 )
1998
27
Cerebral visual impairment in preterm infants with periventricular leukomalacia. ( 9436798 )
1997
28
Cerebral visual impairment in periventricular leukomalacia: MR correlation. ( 8733977 )
1996
29
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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....