Aliases & Classifications for Color Vision Deficiency

MalaCards integrated aliases for Color Vision Deficiency:

Name: Color Vision Deficiency 25
Color Blindness 25 69
Abnormality of Color Vision 29
Defective Color Vision 25
Color Vision Defects 25
Vision Defect, Color 25
Color Vision Defect 69

Classifications:



Summaries for Color Vision Deficiency

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).

MalaCards based summary : Color Vision Deficiency, also known as color blindness, is related to red-green color vision defects and acquired color blindness, and has symptoms including photophobia, visual disturbance 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 Retinoid cycle disease events. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes and eye, and related phenotype is 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:


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.56 OPN1MW OPN1LW
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 12)
id 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 Phase 1 15686-51-8 26987
5
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
6 Anti-Allergic Agents Phase 1
7 Antipruritics Phase 1
8 Dermatologic Agents Phase 1
9 Histamine Antagonists Phase 1
10 Histamine H1 Antagonists Phase 1
11
Histamine Phosphate Phase 1 51-74-1 65513
12 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 16)

id 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 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
3 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
4 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
5 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
6 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
7 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
8 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
9 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
10 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
11 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
12 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
13 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536
14 Evaluation of Different Color Vision Tests in Children Recruiting NCT02464241
15 Optic Neuritis and Ganglion Cell Layer Recruiting NCT02864134
16 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Color Vision Deficiency

Genetic Tests for Color Vision Deficiency

Genetic tests related to Color Vision Deficiency:

id Genetic test Affiliating Genes
1 Abnormality of Color Vision 29

Anatomical Context for Color Vision Deficiency

MalaCards organs/tissues related to Color Vision Deficiency:

39
Testes, Eye

Publications for Color Vision Deficiency

Articles related to Color Vision Deficiency:

(show top 50) (show all 57)
id 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
Acquired color vision deficiency. ( 26656928 )
2016
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
Prevalence of color vision deficiency among arc welders. ( 26987544 )
2016
8
Tests for color vision deficiency: Is it time to revise the standards? ( 26632139 )
2015
9
Visual Search in the Real World: Color Vision Deficiency Affects Peripheral Guidance, but Leaves Foveal Verification Largely Unaffected. ( 26733851 )
2015
10
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
11
A Call for Considering Color Vision Deficiency When Creating Graphics for Psychology Reports. ( 26273941 )
2015
12
Red-Green Color Vision Deficiency and Lack of Awareness among Rural School Students in India. ( 26576384 )
2015
13
Prevalence of Color Vision Deficiency and its Correlation with Amblyopia and Refractive Errors among Primary School Children. ( 26425314 )
2015
14
Is Male Migraine Associated With Color Vision Deficiency? Findings Among Israeli Adolescents Between 2007 and 2013. ( 26385974 )
2015
15
Evaluation of acquired color vision deficiency in glaucoma using the rabin cone contrast test. ( 25168899 )
2014
16
Color vision deficiency in preschool children: the multi-ethnic pediatric eye disease study. ( 24702753 )
2014
17
Lack of international uniformity in assessing color vision deficiency in professional pilots. ( 24597159 )
2014
18
Prevalence of Refractive Errors in Students with and without Color Vision Deficiency. ( 25709775 )
2014
19
Color vision deficiency in a middle-aged population: the Shahroud Eye Study. ( 24526316 )
2014
20
Color Vision Deficiency in Zahedan, Iran: Lower than Expected. ( 25237763 )
2014
21
Color vision deficiency. ( 23738573 )
2013
22
Processing of color signals in female carriers of color vision deficiency. ( 22333238 )
2012
23
Color vision deficiency among a group of students of health sciences. ( 24579547 )
2012
24
Structural and functional correlates in color vision deficiency. ( 21494280 )
2011
25
Toothguide Trainer tests with color vision deficiency simulation monitor. ( 20659524 )
2010
26
A comparison of red-green color vision deficiency between medical and non-medical students in Pakistan. ( 20714688 )
2010
27
Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. ( 19098318 )
2009
28
Incidence of myopia in high school students with and without red-green color vision deficiency. ( 19098322 )
2009
29
A physiologically-based model for simulation of color vision deficiency. ( 19834201 )
2009
30
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
31
Screening for congenital color vision deficiency in primary children in Port Harcourt City; teachers' knowledge and performance. ( 19048761 )
2008
32
Retinal nerve fiber layer thickness in congenital color vision deficiency. ( 18850573 )
2008
33
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. ( 17429491 )
2007
34
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array. ( 16874439 )
2006
35
Aviation-relevent epidemiology of color vision deficiency. ( 15742829 )
2005
36
Projected color slides as a method for mass screening test for color vision deficiency (a preliminary study). ( 16040354 )
2005
37
Molecular genetics of color-vision deficiencies. ( 15518188 )
2004
38
Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. ( 15208011 )
2004
39
Behavioral evidence of color vision deficiency in a protanomalia chimpanzee (Pan troglodytes). ( 12687482 )
2003
40
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
41
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. ( 12051694 )
2002
42
Color vision deficiencies in Gilles de la Tourette syndrome. ( 11412879 )
2001
43
Is color vision deficiency an advantage under scotopic conditions? ( 11726645 )
2001
44
Correlation of gene structure and psychophysical measurement in red-green color vision deficiency in Chinese. ( 11094172 )
2000
45
Visual acuity and color vision deficiency in amblyopia. ( 10744210 )
2000
46
Can corrective lenses effectively improve a color vision deficiency when normal color vision is required? ( 9636931 )
1998
47
Dependence of color on context in a case of cortical color vision deficiency. ( 9893864 )
1998
48
Performance of color-dependent air traffic control tasks as a function of color vision deficiency. ( 9025813 )
1996
49
Does color vision deficiency in the endoscopist influence the accuracy of endoscopic diagnosis? An anonymous study with Dutch gastrointestinal endoscopists. ( 7828569 )
1994
50
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. ( 1642230 )
1992

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.32 OPN1LW OPN1MW
2 retinoid metabolic process GO:0001523 9.26 OPN1LW OPN1MW
3 positive regulation of cytokinesis GO:0032467 9.16 OPN1LW OPN1MW
4 phototransduction GO:0007602 8.96 OPN1LW OPN1MW
5 protein-chromophore linkage GO:0018298 8.62 OPN1LW OPN1MW

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 8.96 OPN1LW OPN1MW
2 photoreceptor activity GO:0009881 8.62 OPN1LW OPN1MW

Sources for Color Vision Deficiency

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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