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MCID: CLR033
MIFTS: 42

Color Vision Deficiency

Categories: Eye 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 26
Abnormality of Color Vision 30 6
Color Blindness 26 74
Defective Color Vision 26
Color Vision Defects 26
Vision Defect, Color 26
Color Vision Defect 74

Classifications:

MalaCards categories:
Anatomical: Eye diseases
See all MalaCards categories (disease lists)


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Summaries for Color Vision Deficiency

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Genetics Home Reference : 26 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).

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 NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Opsins. The drugs Ranibizumab and Lansoprazole have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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 59)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.7 OPN1LW OPN1MW
2 color blindness 31.6 CNGA3 OPN1LW OPN1MW
3 achromatopsia 31.5 CNGA3 NR2E3 OPN1LW OPN1MW OPSIN-LCR
4 blue cone monochromacy 31.2 CNGA3 OPN1LW OPN1MW OPSIN-LCR
5 colorblindness, partial, protan series 29.8 OPN1LW OPN1MW
6 cone dystrophy 29.5 OPN1LW OPN1MW
7 fundus dystrophy 29.0 CNGA3 NR2E3
8 retinitis pigmentosa 28.5 CNGA3 NR2E3 OPN1LW OPN1MW
9 acquired color blindness 11.9
10 achromatopsia 2 11.3
11 aland island eye disease 11.2
12 tritanopia 11.0
13 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.0
14 cone-rod dystrophy, x-linked, 3 11.0
15 mohr-tranebjaerg syndrome 11.0
16 retinoschisis 1, x-linked, juvenile 11.0
17 optic atrophy 5 11.0
18 cone dystrophy 4 11.0
19 cone-rod dystrophy 16 11.0
20 bestrophinopathy 11.0
21 short stature, optic nerve atrophy, and pelger-huet anomaly 11.0
22 hypogonadotropic hypogonadism 1 with or without anosmia 11.0
23 achromatopsia 7 11.0
24 neuritis 10.0
25 colorblindness, partial, deutan series 10.0
26 yemenite deaf-blind hypopigmentation syndrome 10.0
27 suppression amblyopia 10.0
28 amblyopia 10.0
29 myopia 10.0
30 refractive error 10.0
31 cone-rod dystrophy 2 9.9
32 sickle cell anemia 9.9
33 optic neuritis 9.9
34 acute retrobulbar neuritis 9.9
35 optic nerve disease 9.9
36 retinal disease 9.9
37 neuropathy 9.9
38 ocular hypertension 9.9
39 adrenomyeloneuropathy 9.9
40 central serous chorioretinopathy 9.9
41 gilles de la tourette syndrome 9.9
42 myopia 1, x-linked 9.9
43 leber congenital amaurosis 4 9.9
44 microvascular complications of diabetes 5 9.9
45 diabetes mellitus 9.9
46 retinitis 9.9
47 night blindness 9.8
48 multiple sclerosis 9.7
49 prostate cancer 9.7
50 hemophilia b 9.7

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

GenomeRNAi Phenotypes related to Color Vision Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.4 OPN1LW OPN1MW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.4 OPN1LW CNGA3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.4 CNGA3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 CNGA3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.4 OPN1MW
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.4 OPN1MW
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.4 OPN1MW
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.4 CNGA3
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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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
4 Angiogenesis Modulating Agents Phase 4
5 Angiogenesis Inhibitors Phase 4
6 Proton Pump Inhibitors Phase 4
7 Antacids Phase 4
8 Anti-Ulcer Agents Phase 4
9 Gastrointestinal Agents Phase 4
10
Histamine Approved, Investigational Phase 1 51-45-6 774
11
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
12
Sodium Citrate Approved, Investigational Phase 1 68-04-2
13
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
15 Anti-Allergic Agents Phase 1
16 Neurotransmitter Agents Phase 1
17 Histamine H1 Antagonists Phase 1
18 Dermatologic Agents Phase 1
19 Antipruritics Phase 1
20
Histamine Phosphate Phase 1 51-74-1 65513
21 Histamine Antagonists Phase 1
22 Phosphodiesterase Inhibitors Phase 1
23 Anticoagulants Phase 1
24 Phosphodiesterase 5 Inhibitors Phase 1
25 Sildenafil Citrate Phase 1 171599-83-0
26 Vasodilator Agents Phase 1
27 Calcium, Dietary Phase 1
28 Citrate Phase 1
29 Chelating Agents Phase 1

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
2 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4 Lansoprazole
3 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
4 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
5 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
6 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
7 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
8 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
9 Gene Therapy for Achromatopsia (CNGA3) Not yet recruiting NCT03758404 Phase 1, Phase 2
10 Single Ascending Dose Study in Participants With LCA10 Not yet recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
11 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
12 Sildenafil and Stroke Recovery Terminated NCT02628847 Phase 1 sildenafil citrate;Placebo
13 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
14 Evaluation of Different Color Vision Tests in Children Completed NCT02464241
15 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
16 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
17 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
18 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
19 Exploring Computerised Cognitive Training for People With Huntington's Disease Completed NCT02990676 Not Applicable
20 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Recruiting NCT03481764
21 Biomarker for Duchenne Disease (BioDuchenne) Recruiting NCT02994030
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Optic Neuritis and Ganglion Cell Layer Active, not recruiting NCT02864134

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 30
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Anatomical Context for Color Vision Deficiency

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MalaCards organs/tissues related to Color Vision Deficiency:

42
Testes, Prostate, Eye, Liver, Retina
Sources

Publications for Color Vision Deficiency

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Articles related to Color Vision Deficiency:

(show top 50) (show all 272)
# Title Authors Year
1
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. ( 30951266 )
2019
2
Contrast sensitivity of patients with congenital color vision deficiency. ( 29500697 )
2019
3
Depth perception in patients with congenital color vision deficiency. ( 30518972 )
2019
4
Cone Contrast Test for Color Vision Deficiency Screening Among a Cohort of Military Aircrew Applicants. ( 30670115 )
2019
5
The prevalence of color vision deficiency in the northeast of Iran. ( 30899851 )
2019
6
Improving Discrimination in Color Vision Deficiency by Image Re-Coloring. ( 31096676 )
2019
7
Contact Lenses for Color Blindness. ( 29696828 )
2018
8
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. ( 30477452 )
2018
9
Prevalence of Color Blindness in Undergraduates of Kathmandu University. ( 31065132 )
2018
10
Color vision deficiency among biomedical students: a cross-sectional study. ( 29950807 )
2018
11
Optimizing colormaps with consideration for color vision deficiency to enable accurate interpretation of scientific data. ( 30067751 )
2018
12
Blind spots in medical students with color vision deficiency. ( 30310266 )
2018
13
Emulating Perceptual Experience of Color Vision Deficiency with Virtual Reality. ( 30371498 )
2018
14
Prevalence of color vision deficiency among school children in Wolkite, Southern Ethiopia. ( 30486898 )
2018
15
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. ( 28166717 )
2017
16
Frequency of color blindness in pre-employment screening in a tertiary health care center in Pakistan. ( 28523050 )
2017
17
Gene Therapy for Color Blindness. ( 29259520 )
2017
18
Prevalence of color vision deficiency among arc welders. ( 26987544 )
2017
19
A method for identifying color vision deficiency malingering. ( 28004196 )
2017
20
Wearable Improved Vision System for Color Vision Deficiency Correction. ( 28507827 )
2017
21
Illuminations that improve color discrimination ability of people with red-green color vision deficiency. ( 29036063 )
2017
22
Color Functionality Used in Visual Display for Occupational and Environmental Safety and Managing Color Vision Deficiency. ( 28331120 )
2017
23
Is Male Migraine Associated With Color Vision Deficiency? Findings Among Israeli Adolescents Between 2007 and 2013. ( 26385974 )
2016
24
Acquired color vision deficiency. ( 26656928 )
2016
25
Color Vision Deficiency and Functional Disorders Among Israeli Male Adolescents Between 2007 and 2013. ( 27280722 )
2016
26
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. ( 27447086 )
2016
27
Functional reflective polarizer for augmented reality and color vision deficiency. ( 29092366 )
2016
28
Prevalence of Color Vision Deficiency and its Correlation with Amblyopia and Refractive Errors among Primary School Children. ( 26425314 )
2015
29
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
30
Is adding a new class of cones to the retina sufficient to cure color-blindness? ( 26418498 )
2015
31
A Cure for Color Blindness? Stand by Buck Rogers! ( 26421338 )
2015
32
A Call for Considering Color Vision Deficiency When Creating Graphics for Psychology Reports. ( 26273941 )
2015
33
Red-Green Color Vision Deficiency and Lack of Awareness among Rural School Students in India. ( 26576384 )
2015
34
Tests for color vision deficiency: Is it time to revise the standards? ( 26632139 )
2015
35
Visual Search in the Real World: Color Vision Deficiency Affects Peripheral Guidance, but Leaves Foveal Verification Largely Unaffected. ( 26733851 )
2015
36
Why racial color-blindness is myopic. ( 24750092 )
2014
37
See no evil: color blindness and perceptions of subtle racial discrimination in the workplace. ( 25111553 )
2014
38
Curing color blindness--mice and nonhuman primates. ( 25147187 )
2014
39
Color vision deficiency in a middle-aged population: the Shahroud Eye Study. ( 24526316 )
2014
40
Lack of international uniformity in assessing color vision deficiency in professional pilots. ( 24597159 )
2014
41
Color vision deficiency in preschool children: the multi-ethnic pediatric eye disease study. ( 24702753 )
2014
42
Evaluation of acquired color vision deficiency in glaucoma using the Rabin cone contrast test. ( 25168899 )
2014
43
Color vision deficiency in Zahedan, Iran: lower than expected. ( 25237763 )
2014
44
Prevalence of Refractive Errors in Students with and without Color Vision Deficiency. ( 25709775 )
2014
45
Perceptions of racial confrontation: the role of color blindness and comment ambiguity. ( 23356360 )
2013
46
Color vision deficiency. ( 23738573 )
2013
47
Modern racism attitudes among white students: the role of dominance and authoritarianism and the mediating effects of racial color-blindness. ( 23057194 )
2012
48
Color blindness among multiple sclerosis patients in Isfahan. ( 23267377 )
2012
49
Processing of color signals in female carriers of color vision deficiency. ( 22333238 )
2012
50
Color vision deficiency among a group of students of health sciences. ( 24579547 )
2012
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Variations for Color Vision Deficiency

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ClinVar genetic disease variations for Color Vision Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
2 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
3 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
4 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
5 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 GRCh37 Chromosome 6, 64431408: 64431408
6 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 GRCh38 Chromosome 6, 63721512: 63721512
7 RPGRIP1 NM_020366.3(RPGRIP1): c.2567_2568dup (p.Val857Leufs) duplication Likely pathogenic rs1555302200 GRCh37 Chromosome 14, 21794189: 21794190
8 RPGRIP1 NM_020366.3(RPGRIP1): c.2567_2568dup (p.Val857Leufs) duplication Likely pathogenic rs1555302200 GRCh38 Chromosome 14, 21326030: 21326031
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 67
Show member pathways
 11.29 OPN1LW OPN1MW
2
Opsins 67
9.58 OPN1LW OPN1MW
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 OPN1LW OPN1MW
2 photoreceptor disc membrane GO:0097381 8.62 OPN1LW OPN1MW

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

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 OPN1LW OPN1MW
2 photoreceptor activity GO:0009881 8.62 OPN1LW OPN1MW
Sources

Sources for Color Vision Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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