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MCID: CLR033
MIFTS: 43

Color Vision Deficiency

Categories: Eye diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Color Vision Deficiency

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MalaCards integrated aliases for Color Vision Deficiency:

Name: Color Vision Deficiency 25
Abnormality of Color Vision 29 6
Color Blindness 25 72
Defective Color Vision 25
Color Vision Defects 25
Vision Defect, Color 25
Color-Vision Disease 59
Color Vision Defect 72

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases


External Ids:

ICD10 via Orphanet 34 H53.5
Orphanet 59 ORPHA98658
UMLS 72 C0009398 C0242225
Sources

Summaries for Color Vision Deficiency

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Genetics Home Reference : 25 Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. Red-green color vision defects are the most common form of color vision deficiency. Affected individuals have trouble distinguishing between some shades of red, yellow, and green. Blue-yellow color vision defects (also called tritan defects), which are rarer, cause problems with differentiating shades of blue and green and cause difficulty distinguishing dark blue from black. These two forms of color vision deficiency disrupt color perception but do not affect the sharpness of vision (visual acuity). A less common and more severe form of color vision deficiency called blue cone monochromacy causes very poor visual acuity and severely reduced color vision. Affected individuals have additional vision problems, which can include increased sensitivity to light (photophobia), involuntary back-and-forth eye movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is sometimes considered to be a form of achromatopsia, a disorder characterized by a partial or total lack of color vision with other vision problems.

MalaCards based summary : Color Vision Deficiency, also known as abnormality of color vision, is related to red-green color blindness and color blindness, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. An important gene associated with Color Vision Deficiency is CNGA3 (Cyclic Nucleotide Gated Channel Subunit Alpha 3), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Diseases associated with visual transduction. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and retina.

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Related Diseases for Color Vision Deficiency

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Diseases related to Color Vision Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.9 OPN1MW OPN1LW
2 color blindness 31.3 OPN1MW OPN1LW CNGA3
3 colorblindness, partial, protan series 30.1 OPN1MW OPN1LW
4 achromatopsia 29.5 OPSIN-LCR OPN1MW OPN1LW NR2E3 CNGA3
5 cone dystrophy 29.4 OPN1MW OPN1LW
6 fundus dystrophy 28.9 NR2E3 CNGA3
7 blue cone monochromacy 28.1 OPSIN-LCR OPN1MW OPN1LW CNGA3
8 retinitis pigmentosa 27.7 OPN1MW OPN1LW NR2E3 CNGA3
9 acquired color blindness 12.0
10 tritanopia 11.5
11 aland island eye disease 11.3
12 optic atrophy 3, autosomal dominant 11.1
13 optic atrophy 1 11.1
14 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.1
15 cone-rod dystrophy, x-linked, 3 11.1
16 mohr-tranebjaerg syndrome 11.1
17 optic atrophy 5 11.1
18 bestrophinopathy, autosomal recessive 11.1
19 cone dystrophy 4 11.1
20 cone-rod dystrophy 16 11.1
21 short stature, optic nerve atrophy, and pelger-huet anomaly 11.1
22 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
23 achromatopsia 7 11.1
24 colorblindness, partial, deutan series 10.4
25 yemenite deaf-blind hypopigmentation syndrome 10.4
26 myopia 10.1
27 refractive error 10.1
28 inherited retinal disorder 10.1
29 bornholm eye disease 10.0
30 microvascular complications of diabetes 5 10.0
31 cyanosis, transient neonatal 10.0
32 suppression amblyopia 10.0
33 amblyopia 10.0
34 eye disease 10.0
35 open-angle glaucoma 10.0
36 ocular hypertension 10.0
37 central serous chorioretinopathy 10.0
38 liver cirrhosis 10.0
39 alcohol dependence 9.9
40 gilles de la tourette syndrome 9.9
41 attention deficit-hyperactivity disorder 9.9
42 migraine with or without aura 1 9.9
43 strabismus 9.9
44 achromatopsia 2 9.9
45 myopia 1, x-linked 9.9
46 macular degeneration, age-related, 1 9.9
47 microvascular complications of diabetes 1 9.9
48 intraocular pressure quantitative trait locus 9.9
49 microvascular complications of diabetes 2 9.9
50 neuroretinitis 9.9

Graphical network of the top 20 diseases related to Color Vision Deficiency:



Diseases related to Color Vision Deficiency
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Symptoms & Phenotypes for Color Vision Deficiency

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UMLS symptoms related to Color Vision Deficiency:


photophobia, other specified visual disturbances, visual disturbance, subjective visual disturbance, unspecified
Sources

Drugs & Therapeutics for Color Vision Deficiency

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Drugs for Color Vision Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
5
Histamine Approved, Investigational Phase 1 51-45-6 774
6 Anti-Allergic Agents Phase 1
7 Histamine Antagonists Phase 1
8 Histamine H1 Antagonists Phase 1
9 Dermatologic Agents Phase 1
10
Histamine Phosphate Phase 1 51-74-1 65513
11 Antipruritics Phase 1
12
Methamphetamine Approved, Illicit 537-46-2 10836
13
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
14
carbamide peroxide Approved Early Phase 1 124-43-6
15
Dopamine Approved 51-61-6, 62-31-7 681
16
Aripiprazole Approved, Investigational 129722-12-9 60795
17
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
18 Sympathomimetics
19 Central Nervous System Stimulants
20 Neurotransmitter Uptake Inhibitors
21 Dopamine Uptake Inhibitors
22 Adrenergic Agents
23 Autonomic Agents
24 Peripheral Nervous System Agents
25 4-phenylbutyric acid Early Phase 1
26 Protective Agents Early Phase 1
27 Dopamine Agents
28 Neurotransmitter Agents
29 Tranquilizing Agents
30 Central Nervous System Depressants
31 Serotonin 5-HT2 Receptor Antagonists
32 Serotonin Antagonists
33 Antidepressive Agents
34 Serotonin 5-HT1 Receptor Agonists
35 Serotonin Receptor Agonists
36 Serotonin Agents
37 Dopamine Antagonists
38 Antipsychotic Agents
39 Psychotropic Drugs
40 Dopamine agonists
41 Dopamine D2 Receptor Antagonists
42
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
2 A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants With CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
3 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC 402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients With Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene Recruiting NCT02935517 Phase 1, Phase 2
4 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 Recruiting NCT03001310 Phase 1, Phase 2
5 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Children With Achromatopsia Owing to Defects in CNGA3 Recruiting NCT03758404 Phase 1, Phase 2
6 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
7 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 (rAAV2tYF-PR1.7-hCNGB3) in Patients With Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene Recruiting NCT02599922 Phase 1, Phase 2
8 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Investigated in an Exploratory, Dose-escalation Trial Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
9 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
10 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
11 Prevalence and Severity of Colour Vision Deficiency Among Turkish Children Completed NCT04048499
12 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
13 Predictive Effect of Ganglion Cell Layer on Visual Acuity at 6 Months and on Visual Function at 1 Year After an Episode of Optic Neuritis Completed NCT02864134
14 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
15 Evning Exposure to Computer Screen Disrupts Sleep, Attention and Biological Rhythms Completed NCT02957383
16 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
17 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
18 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Population Genetic Study Recruiting NCT03481764
19 Demonstrating Feasibility of Color Vision Deficient Provider Use of EnChroma Products in the Emergency Department Not yet recruiting NCT04021914
20 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
21 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Not yet recruiting NCT04060238
22 Examining the Neural Bases of Early Visual and Auditory Processing and Emotion Recognition Deficits in Schizophrenia Using Magnetoencephalography Not yet recruiting NCT02588014
23 Aripiprazole Effects on Reward Processing in Deficit Syndrome Schizophrenia Terminated NCT00209027 Aripiprazole

Search NIH Clinical Center for Color Vision Deficiency

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Genetic Tests for Color Vision Deficiency

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Genetic tests related to Color Vision Deficiency:

# Genetic test Affiliating Genes
1 Abnormality of Color Vision 29
Sources

Anatomical Context for Color Vision Deficiency

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MalaCards organs/tissues related to Color Vision Deficiency:

41
Testes, Eye, Retina, Brain, Liver, Cortex, Prostate
Sources

Publications for Color Vision Deficiency

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Articles related to Color Vision Deficiency:

(show top 50) (show all 601)
# Title Authors PMID Year
1
Pattern of ocular morbidities: A cross-sectional study on school-going children in Shillong city. 38
31334191 2019
2
Color Vision Deficiency Among Doctors: Can We Make Useful Adaptations to the Color Codes Used in the Clinical Environment? 38
31157739 2019
3
Assessment of VINO filters for correcting red-green Color Vision Deficiency. 38
31252746 2019
4
Novel color filters for the correction of red-green color vision deficiency based on the localized surface plasmon resonance effect of Au nanoparticles. 38
31247601 2019
5
Improving Discrimination in Color Vision Deficiency by Image Re-Coloring. 38
31096676 2019
6
Contrast sensitivity of patients with congenital color vision deficiency. 38
29500697 2019
7
Depth perception in patients with congenital color vision deficiency. 38
30518972 2019
8
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33. 38
30826882 2019
9
Color blindness in the medical workplace: Researchers are debating the role of color in disciplines such as pathology and working toward broader solutions to address color vision deficiencies among medical personnel. 38
30951266 2019
10
The impacts of abnormal color vision on people's life: an integrative review. 38
30443703 2019
11
Impairment of acquired color vision in multiple sclerosis: an early diagnostic sign linked to the greatness of disease. 38
29392642 2019
12
Color Perception in Protanomalous Female Macaca fascicularis. 38
31066374 2019
13
The prevalence of color vision deficiency in the northeast of Iran. 38
30899851 2019
14
[Hereditary color vision deficiency: Physiology, classification, diagnosis and application to aeronautics]. 38
30704748 2019
15
Cone Contrast Test for Color Vision Deficiency Screening Among a Cohort of Military Aircrew Applicants. 38
30670115 2019
16
Spatial visual function in anomalous trichromats: Is less more? 38
30673711 2019
17
Pigmented contact lenses for managing ocular disorders. 38
30465853 2019
18
Prevalence of visual impairment among school children in three primary schools of Sekela Woreda, Amhara regional state, north-west Ethiopia. 38
31205693 2019
19
Mentoring the mentors of students from diverse backgrounds for research. 38
31070417 2019
20
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. 38
30477452 2018
21
Prevalence of color vision deficiency among school children in Wolkite, Southern Ethiopia. 38
30486898 2018
22
Prevalence of Color Blindness in Undergraduates of Kathmandu University. 38
31065132 2018
23
Do EnChroma glasses improve color vision for colorblind subjects? 38
30470042 2018
24
Longitudinal Cognitive Changes in Young Individuals at Ultrahigh Risk for Psychosis. 38
30046827 2018
25
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 38
29770905 2018
26
An Eye on Vision: Five Questions About Vision Screening and Eye Health-Part 2. 38
29883269 2018
27
Contact Lenses for Color Blindness. 38
29696828 2018
28
Can the Farnsworth D15 Color Vision Test Be Defeated through Practice? 38
29683989 2018
29
Color Vision in Aniridia. 38
29801149 2018
30
Genetic Testing in Pediatric Ophthalmology. 38
28971364 2018
31
Color Processing in Zebrafish Retina. 38
30337857 2018
32
Emulating Perceptual Experience of Color Vision Deficiency with Virtual Reality. 38
30371498 2018
33
Blind spots in medical students with color vision deficiency. 38
30310266 2018
34
Color vision deficiency among biomedical students: a cross-sectional study. 38
29950807 2018
35
Optimizing colormaps with consideration for color vision deficiency to enable accurate interpretation of scientific data. 38
30067751 2018
36
Effects of a shade-matching light and background color on reliability in tooth shade selection. 38
29687098 2018
37
Rod Monochromatism (Achromatopsia). 38
30578497 2018
38
Picosecond Laser Treatment for Tattoos and Benign Cutaneous Pigmented Lesions (Secondary publication). 38
29434427 2017
39
Gene Therapy for Color Blindness. 38
29259520 2017
40
Color vision test to differentiate Alzheimer's disease from vascular dementia. 38
28625199 2017
41
Illuminations that improve color discrimination ability of people with red-green color vision deficiency. 38
29036063 2017
42
Lower face asymmetry as a marker for developmental instability. 38
28398004 2017
43
The incidence of needle stick and sharp injuries and their associations with visual function among hospital nurses. 38
28913514 2017
44
Does Physical Fatigue Affect Color Vision? 38
30539101 2017
45
Co-occurrence of Jalili syndrome and muscular overgrowth. 38
28586144 2017
46
Color perception differentiates Alzheimer's Disease (AD) from Vascular Dementia (VaD) patients. 38
28325166 2017
47
Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin. 38
28487225 2017
48
Effects of selection and mutation on epidemiology of X-linked genetic diseases. 38
28092962 2017
49
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. 38
28516000 2017
50
Prevalence of color vision deficiency among arc welders. 38
26987544 2017
Sources

Variations for Color Vision Deficiency

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ClinVar genetic disease variations for Color Vision Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR2E3 NM_014249.4(NR2E3): c.119-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs2723341 15:72103821-72103821 15:71811481-71811481
2 CNGA3 NM_001079878.2(CNGA3): c.775C> T (p.Arg259Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 2:99012462-99012462 2:98395999-98395999
3 RPGRIP1 NM_020366.3(RPGRIP1): c.2567_2568dup (p.Val857fs) duplication Likely pathogenic rs1555302200 14:21794189-21794190 14:21326030-21326031
4 EYS NM_001142800.2(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 6:64431408-64431408 6:63721512-63721512
Sources

Expression for Color Vision Deficiency

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Search GEO for disease gene expression data for Color Vision Deficiency.
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Pathways for Color Vision Deficiency

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Pathways related to Color Vision Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.49 OPN1MW OPN1LW
2
Diseases associated with visual transduction 66
Show member pathways
 10.23 OPN1MW OPN1LW
3
Opsins 66
9.58 OPN1MW OPN1LW
Sources

GO Terms for Color Vision Deficiency

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Cellular components related to Color Vision Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 OPN1MW OPN1LW
2 photoreceptor disc membrane GO:0097381 8.62 OPN1MW OPN1LW

Biological processes related to Color Vision Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.76 OPN1MW OPN1LW NR2E3 CNGA3
2 response to stimulus GO:0050896 9.46 OPN1MW OPN1LW NR2E3 CNGA3
3 retinoid metabolic process GO:0001523 9.43 OPN1MW OPN1LW
4 positive regulation of cytokinesis GO:0032467 9.4 OPN1MW OPN1LW
5 cellular response to light stimulus GO:0071482 9.37 OPN1MW OPN1LW
6 protein-chromophore linkage GO:0018298 9.32 OPN1MW OPN1LW
7 detection of visible light GO:0009584 9.26 OPN1MW OPN1LW
8 visual perception GO:0007601 9.26 OPN1MW OPN1LW NR2E3 CNGA3
9 phototransduction GO:0007602 8.8 OPN1MW OPN1LW NR2E3

Molecular functions related to Color Vision Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 8.96 OPN1MW OPN1LW
2 photoreceptor activity GO:0009881 8.62 OPN1MW OPN1LW
Sources

Sources for Color Vision Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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