Aliases & Classifications for Color Vision Deficiency

MalaCards integrated aliases for Color Vision Deficiency:

Name: Color Vision Deficiency 24
Color Blindness 24 69
Abnormality of Color Vision 28
Defective Color Vision 24
Color Vision Defects 24
Vision Defect, Color 24
Color Vision Defect 69

Classifications:



External Ids:

UMLS 69 C0009398

Summaries for Color Vision Deficiency

Genetics Home Reference : 24 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 color blindness, is related to color blindness and colorblindness, partial, protan series, and has symptoms including visual disturbance, subjective visual disturbance, unspecified and other specified visual disturbances. An important gene associated with Color Vision Deficiency is OPN1LW (Opsin 1, Long Wave Sensitive), 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 and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Color Vision Deficiency

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



Diseases related to Color Vision Deficiency

Symptoms & Phenotypes for Color Vision Deficiency

UMLS symptoms related to Color Vision Deficiency:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.56 OPN1LW OPN1MW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.56 OPN1MW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.56 OPN1LW
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.56 OPN1MW
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.56 OPN1MW
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.56 OPN1MW
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.56 OPN1LW
8 Increased circadian period length GR00213-A 8.62 OPN1LW OPN1MW

Drugs & Therapeutics for Color Vision Deficiency

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

(show all 22)
# 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
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
5
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872 150310
6 diuretics Phase 2, Phase 3
7 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
8 Mineralocorticoids Phase 2, Phase 3
9 Natriuretic Agents Phase 2, Phase 3
10 Hormone Antagonists Phase 2, Phase 3
11 Hormones Phase 2, Phase 3
12 Diuretics, Potassium Sparing Phase 2, Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
14
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
15
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
16
Histamine Phosphate Phase 1 51-74-1 65513
17 Neurotransmitter Agents Phase 1
18 Histamine Antagonists Phase 1
19 Histamine H1 Antagonists Phase 1
20 Dermatologic Agents Phase 1
21 Anti-Allergic Agents Phase 1
22 Antipruritics Phase 1

Interventional clinical trials:

(show all 19)

# 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 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
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 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
10 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
11 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
12 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
13 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
14 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
15 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536
16 Evaluation of Different Color Vision Tests in Children Recruiting NCT02464241
17 Optic Neuritis and Ganglion Cell Layer Recruiting NCT02864134
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
19 Prevalence of Dyschromatopsia in Glaucoma Patients Withdrawn NCT01994564

Search NIH Clinical Center for Color Vision Deficiency

Genetic Tests for Color Vision Deficiency

Genetic tests related to Color Vision Deficiency:

# Genetic test Affiliating Genes
1 Abnormality of Color Vision 28

Anatomical Context for Color Vision Deficiency

MalaCards organs/tissues related to Color Vision Deficiency:

38
Testes, Eye

Publications for Color Vision Deficiency

Articles related to Color Vision Deficiency:

(show top 50) (show all 59)
# Title Authors Year
1
Wearable Improved Vision System for Color Vision Deficiency Correction. ( 28507827 )
2017
2
Color Functionality Used in Visual Display for Occupational and Environmental Safety and Managing Color Vision Deficiency. ( 28331120 )
2017
3
Illuminations that improve color discrimination ability of people with red-green color vision deficiency. ( 29036063 )
2017
4
A method for identifying color vision deficiency malingering. ( 28004196 )
2016
5
Color Vision Deficiency and Functional Disorders Among Israeli Male Adolescents Between 2007 and 2013. ( 27280722 )
2016
6
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. ( 27447086 )
2016
7
Acquired color vision deficiency. ( 26656928 )
2016
8
Prevalence of color vision deficiency among arc welders. ( 26987544 )
2016
9
Functional reflective polarizer for augmented reality and color vision deficiency. ( 29092366 )
2016
10
Prevalence of Color Vision Deficiency and its Correlation with Amblyopia and Refractive Errors among Primary School Children. ( 26425314 )
2015
11
A Call for Considering Color Vision Deficiency When Creating Graphics for Psychology Reports. ( 26273941 )
2015
12
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
13
Tests for color vision deficiency: Is it time to revise the standards? ( 26632139 )
2015
14
Is Male Migraine Associated With Color Vision Deficiency? Findings Among Israeli Adolescents Between 2007 and 2013. ( 26385974 )
2015
15
Visual Search in the Real World: Color Vision Deficiency Affects Peripheral Guidance, but Leaves Foveal Verification Largely Unaffected. ( 26733851 )
2015
16
Red-Green Color Vision Deficiency and Lack of Awareness among Rural School Students in India. ( 26576384 )
2015
17
Prevalence of Refractive Errors in Students with and without Color Vision Deficiency. ( 25709775 )
2014
18
Lack of international uniformity in assessing color vision deficiency in professional pilots. ( 24597159 )
2014
19
Evaluation of acquired color vision deficiency in glaucoma using the rabin cone contrast test. ( 25168899 )
2014
20
Color vision deficiency in a middle-aged population: the Shahroud Eye Study. ( 24526316 )
2014
21
Color Vision Deficiency in Zahedan, Iran: Lower than Expected. ( 25237763 )
2014
22
Color vision deficiency in preschool children: the multi-ethnic pediatric eye disease study. ( 24702753 )
2014
23
Color vision deficiency. ( 23738573 )
2013
24
Color vision deficiency among a group of students of health sciences. ( 24579547 )
2012
25
Processing of color signals in female carriers of color vision deficiency. ( 22333238 )
2012
26
Structural and functional correlates in color vision deficiency. ( 21494280 )
2011
27
Toothguide Trainer tests with color vision deficiency simulation monitor. ( 20659524 )
2010
28
A comparison of red-green color vision deficiency between medical and non-medical students in Pakistan. ( 20714688 )
2010
29
Incidence of myopia in high school students with and without red-green color vision deficiency. ( 19098322 )
2009
30
Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. ( 19098318 )
2009
31
Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders. ( 19662027 )
2009
32
A physiologically-based model for simulation of color vision deficiency. ( 19834201 )
2009
33
Screening for congenital color vision deficiency in primary children in Port Harcourt City; teachers' knowledge and performance. ( 19048761 )
2008
34
Retinal nerve fiber layer thickness in congenital color vision deficiency. ( 18850573 )
2008
35
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. ( 17429491 )
2007
36
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array. ( 16874439 )
2006
37
Aviation-relevent epidemiology of color vision deficiency. ( 15742829 )
2005
38
Projected color slides as a method for mass screening test for color vision deficiency (a preliminary study). ( 16040354 )
2005
39
Molecular genetics of color-vision deficiencies. ( 15518188 )
2004
40
Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. ( 15208011 )
2004
41
An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency. ( 12626747 )
2003
42
Behavioral evidence of color vision deficiency in a protanomalia chimpanzee (Pan troglodytes). ( 12687482 )
2003
43
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. ( 12051694 )
2002
44
Color vision deficiencies in Gilles de la Tourette syndrome. ( 11412879 )
2001
45
Is color vision deficiency an advantage under scotopic conditions? ( 11726645 )
2001
46
Visual acuity and color vision deficiency in amblyopia. ( 10744210 )
2000
47
Correlation of gene structure and psychophysical measurement in red-green color vision deficiency in Chinese. ( 11094172 )
2000
48
Dependence of color on context in a case of cortical color vision deficiency. ( 9893864 )
1998
49
Can corrective lenses effectively improve a color vision deficiency when normal color vision is required? ( 9636931 )
1998
50
Performance of color-dependent air traffic control tasks as a function of color vision deficiency. ( 9025813 )
1996

Variations for Color Vision Deficiency

Expression for Color Vision Deficiency

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

Pathways for Color Vision Deficiency

GO Terms for Color Vision Deficiency

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 visual perception GO:0007601 9.37 OPN1LW OPN1MW
2 retinoid metabolic process GO:0001523 9.32 OPN1LW OPN1MW
3 positive regulation of cytokinesis GO:0032467 9.26 OPN1LW OPN1MW
4 phototransduction GO:0007602 9.16 OPN1LW OPN1MW
5 protein-chromophore linkage GO:0018298 8.96 OPN1LW OPN1MW
6 detection of visible light GO:0009584 8.62 OPN1LW OPN1MW

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

# Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.16 OPN1LW OPN1MW
2 photoreceptor activity GO:0009881 8.96 OPN1LW OPN1MW
3 G-protein coupled photoreceptor activity GO:0008020 8.62 OPN1LW OPN1MW

Sources for Color Vision Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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