MCID: CLR033
MIFTS: 41

Color Vision Deficiency

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Color Vision Deficiency

MalaCards integrated aliases for Color Vision Deficiency:

Name: Color Vision Deficiency 25
Abnormality of Color Vision 29 6
Color Blindness 25 71
Defective Color Vision 25
Color Vision Defects 25
Vision Defect, Color 25
Color-Vision Disease 58
Color Vision Defect 71

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H53.5
Orphanet 58 ORPHA98658
UMLS 71 C0009398 C0242225

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). 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 Histamine and Clemastine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Color Vision Deficiency

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

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.5 OPN1LW CNGA3
2 color blindness 30.8 OPSIN-LCR OPN1MW OPN1LW CNGA3
3 achromatopsia 30.5 OPSIN-LCR OPN1LW NR2E3 CNGA3
4 bornholm eye disease 30.0 OPN1MW OPN1LW
5 colorblindness, partial, protan series 29.6 OPN1LW CNGA3
6 achromatopsia 2 29.3 NR2E3 CNGA3
7 pathologic nystagmus 29.1 OPN1LW CNGA3
8 retinoschisis 1, x-linked, juvenile 29.1 NR2E3 CNGA3
9 fundus dystrophy 29.0 OPN1LW NR2E3 CNGA3
10 cone dystrophy 28.8 OPN1MW OPN1LW CNGA3
11 retinal disease 28.7 OPN1LW NR2E3 CNGA3
12 blue cone monochromacy 28.5 OPSIN-LCR OPN1MW OPN1LW CNGA3
13 cone-rod dystrophy 2 28.2 OPN1MW OPN1LW NR2E3 CNGA3
14 retinitis pigmentosa 27.5 OPSIN-LCR OPN1MW OPN1LW NR2E3 CNGA3
15 acquired color blindness 12.0
16 tritanopia 11.5
17 aland island eye disease 11.3
18 optic atrophy 3, autosomal dominant 11.1
19 optic atrophy 1 11.1
20 cone-rod dystrophy, x-linked, 3 11.1
21 mohr-tranebjaerg syndrome 11.1
22 optic atrophy 5 11.1
23 bestrophinopathy, autosomal recessive 11.1
24 cone dystrophy 4 11.1
25 cone-rod dystrophy 16 11.1
26 short stature, optic nerve atrophy, and pelger-huet anomaly 11.1
27 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
28 achromatopsia 7 11.1
29 colorblindness, partial, deutan series 10.4
30 yemenite deaf-blind hypopigmentation syndrome 10.4
31 myopia 10.1
32 refractive error 10.1
33 inherited retinal disorder 10.1
34 microvascular complications of diabetes 5 10.0
35 cyanosis, transient neonatal 10.0
36 suppression amblyopia 10.0
37 amblyopia 10.0
38 eye disease 10.0
39 open-angle glaucoma 10.0
40 ocular hypertension 10.0
41 central serous chorioretinopathy 10.0
42 liver cirrhosis 10.0
43 alcohol dependence 9.9
44 gilles de la tourette syndrome 9.9
45 attention deficit-hyperactivity disorder 9.9
46 migraine with or without aura 1 9.9
47 strabismus 9.9
48 myopia 1, x-linked 9.9
49 macular degeneration, age-related, 1 9.9
50 microvascular complications of diabetes 1 9.9

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

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.53 OPN1LW OPN1MW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 OPN1MW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.53 OPN1LW CNGA3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.53 CNGA3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.53 OPN1MW
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.53 CNGA3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.53 OPN1MW
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.53 OPN1MW
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.53 OPN1MW
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.53 OPN1LW
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.53 CNGA3

Drugs & Therapeutics for Color Vision Deficiency

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

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

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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 (AAV2/8-hCARp.hCNGB3 and AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 or CNGA3 Recruiting NCT03278873 Phase 1, Phase 2
5 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
6 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 Active, not recruiting NCT03001310 Phase 1, Phase 2
7 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
8 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
9 Examining the Neural Bases of Early Visual and Auditory Processing and Emotion Recognition Deficits in Schizophrenia Using Magnetoencephalography Unknown status NCT02588014
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 Demonstrating Feasibility of Color Vision Deficient Provider Use of EnChroma Products in the Emergency Department Recruiting NCT04021914
17 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
18 Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials Recruiting NCT04124185
19 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
20 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Population Genetic Study Recruiting NCT03481764
21 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
22 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
23 Aripiprazole Effects on Reward Processing in Deficit Syndrome Schizophrenia Terminated NCT00209027 Aripiprazole

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 29

Anatomical Context for Color Vision Deficiency

MalaCards organs/tissues related to Color Vision Deficiency:

40
Eye, Testes, Retina, Liver, Brain, Cortex, Prostate

Publications for Color Vision Deficiency

Articles related to Color Vision Deficiency:

(show top 50) (show all 613)
# Title Authors PMID Year
1
Connecting endoplasmic reticulum and oxidative stress to retinal degeneration, TBI, and traumatic optic neuropathy. 61
31642095 2020
2
Manipulating the hydrophobicity of DNA as a universal strategy for visual biosensing. 61
31915388 2020
3
Neuro-ophthalmic Disease in Pediatric Glaucoma Practice. 61
31821182 2020
4
Incidence of dyschromatopsy in glaucoma. 61
31705359 2019
5
Prevalence of Color Vision Deficiency in an Adult Population in South Korea. 61
31688694 2019
6
Gradient in spectral and color images: from the Di Zenzo initial construction to a generic proposition. 61
31873715 2019
7
Novel color filters for the correction of red-green color vision deficiency based on the localized surface plasmon resonance effect of Au nanoparticles. 61
31247601 2019
8
Ocular abnormalities in beta thalassemia patients: prevalence, impact, and management strategies. 61
31602527 2019
9
The Influence of the Extent of Color-Vision Deficiency on Shade-Matching Ability. 61
31749452 2019
10
Limitations and Precautions in the Use of the Farnsworth-Munsell Dichotomous D-15 Test. 61
31479025 2019
11
Assessment of VINO filters for correcting red-green Color Vision Deficiency. 61
31252746 2019
12
Color Vision Deficiency Among Doctors: Can We Make Useful Adaptations to the Color Codes Used in the Clinical Environment? 61
31157739 2019
13
Pattern of ocular morbidities: A cross-sectional study on school-going children in Shillong city. 61
31334191 2019
14
Improving Discrimination in Color Vision Deficiency by Image Re-Coloring. 61
31096676 2019
15
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. 61
30951266 2019
16
Depth perception in patients with congenital color vision deficiency. 61
30518972 2019
17
Contrast sensitivity of patients with congenital color vision deficiency. 61
29500697 2019
18
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33. 61
30826882 2019
19
The impacts of abnormal color vision on people's life: an integrative review. 61
30443703 2019
20
Color Perception in Protanomalous Female Macaca fascicularis. 61
31066374 2019
21
Impairment of acquired color vision in multiple sclerosis: an early diagnostic sign linked to the greatness of disease. 61
29392642 2019
22
The prevalence of color vision deficiency in the northeast of Iran. 61
30899851 2019
23
[Hereditary color vision deficiency: Physiology, classification, diagnosis and application to aeronautics]. 61
30704748 2019
24
Cone Contrast Test for Color Vision Deficiency Screening Among a Cohort of Military Aircrew Applicants. 61
30670115 2019
25
Discrimination of colors by red-green color vision-deficient observers through digitally generated red filter. 61
31581957 2019
26
Spatial visual function in anomalous trichromats: Is less more? 61
30673711 2019
27
Impact of congenital color vision defect on color-related tasks among schoolchildren in Durban, South Africa. 61
31496857 2019
28
HDAC Inhibition Prevents Primary Cone Degeneration Even After the Onset of Degeneration. 61
31884642 2019
29
Pigmented contact lenses for managing ocular disorders. 61
30465853 2019
30
Mentoring the mentors of students from diverse backgrounds for research. 61
31070417 2019
31
Prevalence of visual impairment among school children in three primary schools of Sekela Woreda, Amhara regional state, north-west Ethiopia. 61
31205693 2019
32
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. 61
30477452 2018
33
Prevalence of color vision deficiency among school children in Wolkite, Southern Ethiopia. 61
30486898 2018
34
Prevalence of Color Blindness in Undergraduates of Kathmandu University. 61
31065132 2018
35
Do EnChroma glasses improve color vision for colorblind subjects? 61
30470042 2018
36
Longitudinal Cognitive Changes in Young Individuals at Ultrahigh Risk for Psychosis. 61
30046827 2018
37
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 61
29770905 2018
38
An Eye on Vision: Five Questions About Vision Screening and Eye Health-Part 2. 61
29883269 2018
39
Contact Lenses for Color Blindness. 61
29696828 2018
40
Can the Farnsworth D15 Color Vision Test Be Defeated through Practice? 61
29683989 2018
41
Color Vision in Aniridia. 61
29801149 2018
42
Genetic Testing in Pediatric Ophthalmology. 61
28971364 2018
43
Color Processing in Zebrafish Retina. 61
30337857 2018
44
Optimizing colormaps with consideration for color vision deficiency to enable accurate interpretation of scientific data. 61
30067751 2018
45
Emulating Perceptual Experience of Color Vision Deficiency with Virtual Reality. 61
30371498 2018
46
Color vision deficiency among biomedical students: a cross-sectional study. 61
29950807 2018
47
Blind spots in medical students with color vision deficiency. 61
30310266 2018
48
Effects of a shade-matching light and background color on reliability in tooth shade selection. 61
29687098 2018
49
Rod Monochromatism (Achromatopsia). 61
30578497 2018
50
Picosecond Laser Treatment for Tattoos and Benign Cutaneous Pigmented Lesions (Secondary publication). 61
29434427 2017

Variations for Color Vision Deficiency

ClinVar genetic disease variations for Color Vision Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR2E3 NM_014249.4(NR2E3):c.119-2A>CSNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481
2 CNGA3 NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys)SNV Pathogenic/Likely pathogenic 9481 rs104893620 2:99012462-99012462 2:98395999-98395999
3 RPGRIP1 NM_020366.3(RPGRIP1):c.2567_2568dup (p.Val857fs)duplication Likely pathogenic 523527 rs1555302200 14:21794188-21794189 14:21326029-21326030
4 EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)SNV Uncertain significance 523415 rs1554163965 6:64431408-64431408 6:63721512-63721512

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 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 for Color Vision Deficiency

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
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