MCID: CRB159
MIFTS: 33

Cerebral Visual Impairment malady

Categories: Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Cerebral Visual Impairment

Aliases & Descriptions 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 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 Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and brain.

Wikipedia : 71 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

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 bosch-boonstra-schaaf optic atrophy syndrome 10.9
2 cortical blindness 10.8
3 epilepsy, hearing loss, and mental retardation syndrome 10.8
4 cerebritis 10.3
5 cerebral palsy 9.9
6 leukomalacia 9.9
7 spastic cerebral palsy 9.8
8 periventricular leukomalacia 9.8
9 spasticity 9.8
10 strabismus 9.6
11 gliomatosis cerebri 9.6
12 pancreatitis 9.6
13 intellectual disability 9.6
14 azathioprine or 6-mercatopurine toxicity or dose selection 9.1 FGF12 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 245)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 3 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 4,Phase 3 59-92-7 6047
3
Donepezil Approved Phase 4,Phase 1 120014-06-4 3152
4
Memantine Approved, Investigational Phase 4 19982-08-2 4054
5
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7
Carbidopa Approved Phase 4,Phase 3 28860-95-9 34359 38101
8
Ezogabine Approved Phase 4 150812-12-7 121892
9
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
10 N-Methylaspartate Phase 4,Phase 2
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Protective Agents Phase 4,Early Phase 1
13 Central Nervous System Depressants Phase 4,Phase 1,Early Phase 1
14 Analgesics Phase 4,Phase 2,Phase 3
15 Dopamine agonists Phase 4,Phase 2,Phase 3
16 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Adjuvants, Immunologic Phase 4,Phase 3
18 Cholinesterase Inhibitors Phase 4,Phase 1
19 Adrenergic Agents Phase 4
20 Adrenergic Agonists Phase 4
21 Adrenergic alpha-2 Receptor Agonists Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Nootropic Agents Phase 4,Phase 1
24 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
25 Anesthetics Phase 4,Phase 3,Phase 1
26 Anesthetics, Dissociative Phase 4
27 Anesthetics, General Phase 4
28 Anesthetics, Intravenous Phase 4
29 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Dopamine Agents Phase 4,Phase 2,Phase 3
31 Hypnotics and Sedatives Phase 4
32 Excitatory Amino Acid Antagonists Phase 4
33 Excitatory Amino Acids Phase 4
34 Anticonvulsants Phase 4,Phase 2,Phase 3
35 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4,Phase 3
36 Carbidopa, levodopa drug combination Phase 4,Phase 3
37 Antiparkinson Agents Phase 4,Phase 3
38 Neuroprotective Agents Phase 4
39 Aspartic Acid Nutraceutical Phase 4,Phase 2
40
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
41
Aspirin Approved, Vet_approved Phase 2, Phase 3 50-78-2 2244
42
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
43
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
44
Atropine Approved, Vet_approved Phase 3 5908-99-6, 51-55-8 174174
45
Naproxen Approved, Vet_approved Phase 2, Phase 3 22204-53-1 1302 156391
46
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
47
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
48
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
49
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
50
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978

Interventional clinical trials:

(show top 50) (show all 260)
id Name Status NCT ID Phase
1 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 Completed NCT01607346 Phase 4
2 Prevention of N-methyl-D-aspartate (NMDA) Antagonist-induced Psychosis in Kids Completed NCT00205712 Phase 4
3 Delaying the Progression of Driving Impairment in Individuals With Mild Alzheimer's Disease Completed NCT00476008 Phase 4
4 Long-term Study of Duodopa (Levodopa/Carbidopa) in Advanced Parkinson's: Health Outcomes & Net Economic Impact Completed NCT00141518 Phase 4
5 Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human Adults Recruiting NCT03109314 Phase 4
6 Cholinesterase Inhibitors to Slow Progression of Visual Hallucinations in Parkinson&Apos;s Disease Recruiting NCT01856738 Phase 4
7 INfusion VErsus STimulation in Parkinson's Disease Recruiting NCT02480803 Phase 4
8 Functional Vision in TBI Terminated NCT01214070 Phase 4
9 Using Repetitive Transcranial Magnetic Stimulation (rTMS) in the Rehabilitation of Chronic Spatial Neglect After Stroke Unknown status NCT01000103 Phase 3
10 Static and Dynamic Postural Stability in Cerebral Palsy Children Completed NCT01799304 Phase 3
11 Evaluation of VisionQuest 20/20, a Visual Acuity Testing Software Completed NCT00366756 Phase 3
12 Amblyopia (Lazy Eye) Treatment Study Completed NCT00001864 Phase 3
13 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3
14 Idiopathic Intracranial Hypertension Treatment Trial Completed NCT01003639 Phase 2, Phase 3
15 Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3
16 Cytokine Inhibition in Chronic Fatigue Syndrome Patients Completed NCT02108210 Phase 2, Phase 3
17 Assess the Prognostic Usefulness of Flutemetamol (18F) Injection for Identifying Subjects With Amnestic Mild Cognitive Impairment Who Will Convert to Clinically Probable Alzheimer's Disease Completed NCT01028053 Phase 3
18 The Effect of High-Volume Walking With Visual Cues (VC) in Parkinson´s Disease (PD) Completed NCT01391741 Phase 3
19 Effectiveness of an Electronic Training Program for Orienting and Interpreting [18F]Flutemetamol Positron Emission Tomography (PET) Images Completed NCT01672827 Phase 3
20 A Trial of 18F-AV-133 Positron Emission Tomography (PET) Imaging to Differentiate Subjects With Parkinson's Disease (PD) From Other Movement Disorders Completed NCT01550484 Phase 2, Phase 3
21 Acetylsalicylic Acid (ASA) + Paracetamol + Caffeine Combination Compared With ASA + Paracetamol as Well as ASA, Paracetamol, and Caffeine in Headache Patients Completed NCT02183688 Phase 3
22 Study of Efficacy, Safety and Tolerability of Levodopa-Carbidopa Intestinal Gel in Levodopa-Responsive Parkinson's Subjects Completed NCT00660387 Phase 3
23 Study of Efficacy, Safety and Tolerability of Levodopa-Carbidopa Intestinal Gel in Levodopa-Responsive Parkinson's Subjects Completed NCT00357994 Phase 3
24 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3
25 A Task-oriented Circuit Training in Multiple Sclerosis Recruiting NCT02421744 Phase 3
26 Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Recruiting NCT03023540 Phase 3
27 Study of Treatment for Patients With Cancer of the Eye -Retinoblastoma Active, not recruiting NCT00186888 Phase 3
28 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) Active, not recruiting NCT02579759 Phase 3
29 Neuromonitoring in Patients During Aortic Valve Replacement Enrolling by invitation NCT02697786 Phase 3
30 Optimizing (Longer, Deeper) Cooling for Neonatal Hypoxic-Ischemic Encephalopathy(HIE) Terminated NCT01192776 Phase 3
31 Intravitreal Bevacizumab for Non-Arteritic Anterior Ischemic Optic Neuropathy Unknown status NCT00813059 Phase 2
32 Darbepoetin Administration to Preterm Infants Unknown status NCT00334737 Phase 2
33 Proprioception Testing in Persons With Sensorimotor Impairment Unknown status NCT01974635 Phase 1, Phase 2
34 Effectiveness of Rehabilitation on the Recovery of Patients Post Right Stroke With Unilateral Spatial Neglect Unknown status NCT00305513 Phase 2
35 N-methyl-D-aspartic Acid (NMDA) and Cognitive Remediation in Schizophrenia Unknown status NCT01474395 Phase 2
36 Automatic Versus Intentional Movement Exercises to Enhance Arm Functions After Stroke Unknown status NCT01565044 Phase 2
37 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2
38 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2
39 Comparison of PET Amyloid Imaging in Japanese and Western Subjects Completed NCT02813070 Phase 2
40 Brain Uptake and Safety With Probable Alzheimer's Disease, Amnestic Mild Cognitive Impairment and Healthy Volunteers Completed NCT00785759 Phase 2
41 Does Erythropoietin Improve Outcome in Very Preterm Infants? Completed NCT00413946 Phase 2
42 Cognitive Stimulation in Elderly Individuals at Risk to Develop Dementia (Allena-Mente). Completed NCT01793493 Phase 2
43 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2
44 Study of Nasal Insulin to Fight Forgetfulness - Long-acting Insulin Detemir - 21 Days Completed NCT01547169 Phase 2
45 Safety and Effectiveness of Botulinum Toxin in Elderly Patients With Dementia and Muscle Stiffness Completed NCT02212119 Phase 2
46 Efficacy Study of Functional Electrical Stimulation Controlled by Electromyographic Signal for the Treatment of Upper Limb in Post-stroke Patients Completed NCT03019744 Phase 2
47 Home-based Telehealth Stroke Care: A Randomized Trial for Veterans Completed NCT00384748 Phase 2
48 Comparison of Embedded and Added Motor Imagery Training in Patients After Stroke Completed NCT00858910 Phase 2
49 Study of a Single Administration of 3 Doses of Dysport® for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2
50 An Active Approach to Treat Amblyopia: Perceptual Learning and Video Games Recruiting NCT01115283 Phase 1, Phase 2

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
Eye, Cortex, Brain

Publications for Cerebral Visual Impairment

Articles related to Cerebral Visual Impairment:

(show all 26)
id Title Authors Year
1
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
2
Should we add visual acuity ratios to referral criteria for potential cerebral visual impairment? ( 26896051 )
2016
3
Novel genetic causes for cerebral visual impairment. ( 26350515 )
2016
4
Development and face validity of a cerebral visual impairment motor questionnaire for children with cerebral palsy. ( 27481724 )
2016
5
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
6
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. ( 25356883 )
2015
7
Reliability of the modified Paediatric Evaluation of Disability Inventory, Dutch version (PEDI-NL) for children with cerebral palsy and cerebral visual impairment. ( 25500019 )
2015
8
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ( 25804403 )
2015
9
Contributing factors to VEP grating acuity deficit and inter-ocular acuity difference in children with cerebral visual impairment. ( 24346256 )
2014
10
Cross-sectional study on childhood cerebral visual impairment in New Zealand. ( 24568987 )
2014
11
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
12
Chromosomal aberrations in cerebral visual impairment. ( 24912731 )
2014
13
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. ( 24886270 )
2014
14
Identifying and characterising cerebral visual impairment in children: a review. ( 24766507 )
2014
15
The spectrum of cerebral visual impairment as a sequel to premature birth: an overview. ( 23657712 )
2013
16
Defective motion processing in children with cerebral visual impairment due to periventricular white matter damage. ( 21232054 )
2012
17
Reliability of a question inventory for structured history taking in children with cerebral visual impairment. ( 22863818 )
2012
18
Diagnosing cerebral visual impairment in children with good visual acuity. ( 22612357 )
2012
19
Structured history taking to characterize visual dysfunction and plan optimal habilitation for children with cerebral visual impairment. ( 21361916 )
2011
20
Screening for cerebral visual impairment: value of a CVI questionnaire. ( 21913154 )
2011
21
Cerebral Visual Impairment: which perceptive visual dysfunctions can be expected in children with brain damage? A systematic review. ( 20822882 )
2010
22
Assessment of cerebral visual impairment with the L94 visual perceptual battery: clinical value and correlation with MRI findings. ( 19260932 )
2009
23
Cerebral visual impairment in periventricular leukomalacia. ( 9706625 )
1998
24
Cerebral visual impairment in preterm infants with periventricular leukomalacia. ( 9436798 )
1997
25
Cerebral visual impairment in periventricular leukomalacia: MR correlation. ( 8733977 )
1996
26
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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