MCID: CRT012
MIFTS: 37

Cortical Blindness

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Cortical Blindness

MalaCards integrated aliases for Cortical Blindness:

Name: Cortical Blindness 12 15
Blindness, Cortical 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11831
ICD9CM 34 377.75
MeSH 43 D019575
NCIt 49 C118707
SNOMED-CT 67 68574006
ICD10 32 H47.61
UMLS 71 C0155320

Summaries for Cortical Blindness

MalaCards based summary : Cortical Blindness, also known as blindness, cortical, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and hypertensive encephalopathy, and has symptoms including amaurosis fugax An important gene associated with Cortical Blindness is DIAPH1 (Diaphanous Related Formin 1), and among its related pathways/superpathways is GABAergic synapse. The drugs Propofol and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include cortex, eye and brain.

Wikipedia : 74 Cortical blindness is the total or partial loss of vision in a normal-appearing eye caused by damage to... more...

Related Diseases for Cortical Blindness

Diseases related to Cortical Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 345)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.4 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
2 hypertensive encephalopathy 30.4 SLC26A5 F2
3 hepatic coma 30.3 F3 F2
4 sagittal sinus thrombosis 30.1 F3 F2
5 marantic endocarditis 30.0 F3 F2
6 intracranial embolism 29.9 F3 F2
7 optic nerve disease 29.8 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
8 peripheral nervous system disease 29.7 POLG MT-ND6 MT-ND4 MT-ND1
9 neuropathy 29.5 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
10 mitochondrial encephalomyopathy 29.5 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
11 kearns-sayre syndrome 29.5 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
12 lactic acidosis 29.2 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1 F2
13 seizures, cortical blindness, and microcephaly syndrome 12.7
14 cortical blindness-intellectual disability-polydactyly syndrome 12.5
15 cortical blindness, retardation, and postaxial polydactyly 12.5
16 epileptic encephalopathy, early infantile, 23 12.2
17 anton's syndrome 12.0
18 visual agnosia 11.5
19 mitochondrial dna depletion syndrome 4a 11.3
20 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.3
21 adrenoleukodystrophy 11.1
22 mohr-tranebjaerg syndrome 11.1
23 salt and pepper developmental regression syndrome 11.1
24 asparagine synthetase deficiency 11.1
25 combined oxidative phosphorylation deficiency 24 11.1
26 microcephaly 19, primary, autosomal recessive 11.1
27 epileptic encephalopathy, infantile or early childhood, 2 11.1
28 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.1
29 x-linked cerebral adrenoleukodystrophy 11.1
30 yemenite deaf-blind hypopigmentation syndrome 11.1
31 severe congenital neutropenia 1 10.5 MT-ND5 MT-ND1
32 diphyllobothriasis 10.5 MT-ND5 MT-ND1
33 encephalopathy 10.5
34 spinocerebellar degeneration 10.5 POLG ABCD1
35 optic atrophy 6 10.4 MT-ND6 MT-ND4
36 toxic optic neuropathy 10.4 MT-ND6 MT-ND4
37 mitochondrial myopathy, infantile, transient 10.4 MT-ND5 MT-ND1
38 pre-eclampsia 10.4
39 parkinson disease 6, autosomal recessive early-onset 10.4 MT-ND6 MT-ND5
40 central nervous system origin vertigo 10.4 POLG F2
41 optic atrophy 4 10.4 MT-ND6 MT-ND4
42 eclampsia 10.4
43 achenbach syndrome 10.4 F3 F2
44 fournier gangrene 10.4 F3 F2
45 synovial angioma 10.4 F3 F2
46 renal pelvis squamous cell carcinoma 10.4 F3 F2
47 papillary adenofibroma 10.4 F3 F2
48 blue toe syndrome 10.4 F3 F2
49 emphysematous cholecystitis 10.3 F3 F2
50 femoral neuropathy 10.3 F3 F2

Comorbidity relations with Cortical Blindness via Phenotypic Disease Network (PDN):


Acute Cystitis Familial Atrial Fibrillation
Hypertension, Essential Intracranial Embolism

Graphical network of the top 20 diseases related to Cortical Blindness:



Diseases related to Cortical Blindness

Symptoms & Phenotypes for Cortical Blindness

UMLS symptoms related to Cortical Blindness:


amaurosis fugax

Drugs & Therapeutics for Cortical Blindness

Drugs for Cortical Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
2
Sevoflurane Approved, Vet_approved 28523-86-6 5206
3 Isoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Determine the Effect on Intraocular Pressure, Optic Nerve Imaging and Other Markers of Venous Congestion of Volunteer Subjects in the Prone Position for a Period of Five Hours Completed NCT00875043
2 Effects of Sevoflurane and Propofol on Light Flash Evoked Pupillometry. Completed NCT00695890
3 Improving Outcomes and Quality of Life After CABG Completed NCT00005690
4 Towards Routine HPA-screening in Pregnancy to Prevent FNAIT: Assessing Disease Burden and Optimising Risk Group Selection Recruiting NCT04067375
5 The Effect of Table Position on Intraocular Pressure (IOP) and Ocular Perfusion Pressure (OPP) During Prone Spine Surgery Terminated NCT00176722

Search NIH Clinical Center for Cortical Blindness

Cochrane evidence based reviews: blindness, cortical

Genetic Tests for Cortical Blindness

Anatomical Context for Cortical Blindness

MalaCards organs/tissues related to Cortical Blindness:

40
Cortex, Eye, Brain, Liver, Heart, Occipital Lobe, Bone

Publications for Cortical Blindness

Articles related to Cortical Blindness:

(show top 50) (show all 1122)
# Title Authors PMID Year
1
Transient cortical blindness in COVID-19 pneumonia; a PRES-like syndrome: Case report. 61
32387762 2020
2
Cerebellar Parieto-occipital Posterior Reversible Encephalopathy Syndrome and Cerebral Metamorphopsia Associated with Asymptomatic Atrial Septum Vegetation and Renal Disease: Case Report. 61
32516303 2020
3
Cortical Laminar Necrosis as a Result of Status Epilepticus After Resection of Parafalcal Meningioma. 61
32243562 2020
4
Anton's Syndrome associated with autotopagnosia. 61
30661390 2020
5
A core outcome set for pre-eclampsia research: an international consensus development study. 61
32416644 2020
6
[Clinical and imaging course of posterior reversible encephalopathy syndrome in a patient with endocarditis and arterial hypertension]. 61
32086534 2020
7
Pediatric abusive head trauma. 61
32330675 2020
8
Recurrent epileptic seizures following cardiac catheterization with iodixanol: a case report. 61
32054458 2020
9
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. 61
31735425 2020
10
[POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME IN CHILDREN (CASE REPORT)]. 61
32141847 2020
11
Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review. 61
32499749 2020
12
Cyclosporine-A-Based Immunosuppressive Therapy-Induced Neurotoxicity: A Case Report. 61
32431553 2020
13
Rapid Recovery From Cortical Blindness Caused by an Old Cerebral Infarction. 61
32117028 2020
14
Reversible Cortical Blindness in Pediatric Native Valve Endocarditis. 61
31929392 2020
15
Neurotoxicity Associated with Radiological Contrast Agents Used during Coronary Angiography: A Systematic Review. 61
32440532 2020
16
Ongoing sleep disruption in a 5-year-old child with cerebral palsy, cortical blindness and a history of pre-natal cerebral haemorrhage. 61
31943456 2020
17
Accelerated visual recovery from protracted hypoxic cortical blindness in a child. 61
31517136 2019
18
Right Anterior Parasagittal Craniotomy and Interhemispheric Approach for Resection of a Falcontentorial Junction Meningioma: 2-Dimensional Operative Video. 61
31728548 2019
19
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. 61
31904124 2019
20
Anton's syndrome: a rare and unusual form of blindness. 61
31801772 2019
21
[A case of adult-onset mitochondrial encephalopathy due to m.4296G>A gene abnormality]. 61
31564700 2019
22
Recovery from cortical blindness with mepivacaïne. 61
31402624 2019
23
Cortical blindness due to cerebral infarct in advanced pancreatic cancer. 61
31371327 2019
24
Reversible posterior encephalopathy syndrome in a 10-year-old child. 61
30281063 2019
25
Boosting Learning Efficacy with Noninvasive Brain Stimulation in Intact and Brain-Damaged Humans. 61
31133558 2019
26
Functional neuroanatomy of blindsight revealed by activation likelihood estimation meta-analysis. 61
29894718 2019
27
Affective blindsight relies on low spatial frequencies. 61
28993236 2019
28
More than blindsight: Case report of a child with extraordinary visual capacity following perinatal bilateral occipital lobe injury. 61
29146465 2019
29
Tacrolimus-Induced Vision Loss in a Renal Transplant Patient: Posterior Reversible Encephalopathy Syndrome. 61
31104625 2019
30
Transient global amnesia and transient cortical blindness secondary to contrast induced encephalopathy after renal artery angiography. 61
30929878 2019
31
Bilateral middle cerebral artery haemorrhagic infarcts presenting only as cortical blindness. 61
30723089 2019
32
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. 61
30637540 2019
33
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 61
30666632 2019
34
Irreversible fatal contrast-induced encephalopathy: a case report. 61
30922249 2019
35
Hemotoxic Snakebite Presenting with Bilateral Blindness Due to Ischemic Occipital Infarcts. 61
31086455 2019
36
Risk Factors of Transient Cortical Blindness After Cerebral Angiography: A Multicenter Study. 61
31620076 2019
37
History of Anosognosia. 61
31220837 2019
38
Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients. 61
30069833 2019
39
Transient Dyschromatopsia, Static Form Agnosia, and Prosopagnosia Observed in a Patient with Anti-NMDA Receptor Encephalitis. 61
31061739 2019
40
MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy. 61
31949962 2019
41
Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration. 61
31219399 2019
42
[Cortical blindness as initial manifestation of nonbacterial thrombotic endocarditis]. 61
30694190 2019
43
Delayed cortical blindness in hypoxic-ischemic encephalopathy. 61
30505959 2018
44
Acute-onset coma after iso-osmolar iodinated contrast injection: a case report of contrast-induced encephalopathy after elective coronary angiography. 61
31020208 2018
45
MELAS and macroangiopathy: A case report and literature review. 61
30593190 2018
46
Congenital blindness is protective for schizophrenia and other psychotic illness. A whole-population study. 61
30539775 2018
47
Persistent cortical blindness following total laparoscopic distal gastrectomy. 61
29960138 2018
48
Transient Cortical Blindness Associated with Endovascular Procedures for Intracranial Aneurysms. 61
30077753 2018
49
Selenium Toxicity Associated With Reversible Leukoencephalopathy and Cortical Blindness. 61
29971355 2018
50
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. 61
29899372 2018

Variations for Cortical Blindness

Expression for Cortical Blindness

Search GEO for disease gene expression data for Cortical Blindness.

Pathways for Cortical Blindness

Pathways related to Cortical Blindness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 MT-ND6 MT-ND5 MT-ND4 MT-ND1

GO Terms for Cortical Blindness

Cellular components related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.81 TIMM8A TIMM29 POLG MT-ND6 MT-ND5 MT-ND4
2 mitochondrial membrane GO:0031966 9.56 MT-ND6 MT-ND4 MT-ND1 ABCD1
3 mitochondrial respiratory chain complex I GO:0005747 9.5 MT-ND5 MT-ND4 MT-ND1
4 mitochondrial inner membrane GO:0005743 9.43 TIMM8A TIMM29 MT-ND6 MT-ND5 MT-ND4 MT-ND1
5 respiratory chain GO:0070469 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Biological processes related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 NOXRED1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 ALDH7A1
2 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND5 MT-ND4
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND6 MT-ND5 MT-ND4 MT-ND1
4 electron transport coupled proton transport GO:0015990 9.16 MT-ND5 MT-ND4
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Molecular functions related to Cortical Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources for Cortical Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....