CBT
MCID: TRT020
MIFTS: 49

Tritanopia (CBT)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tritanopia

MalaCards integrated aliases for Tritanopia:

Name: Tritanopia 57 12 58 72 29 6 39
Colorblindness, Tritan 57 13
Blue Color Blindness 12 15
Blue Colorblindness 57 72
Cbt 57 72
Colorblindness, Tritan; Cbt 57
Colorblindness, Tritanopic 57
Tritan Colour Blindness 58
Tritan Color Blindness 72
Blue Colour Blindness 58
Congenital Tritanopia 58
Color Blindness, Blue 70
Color Vision Defects 44
Color Vision Defect 70
Color Blindness 70
Tritan Defect 12

Characteristics:

Orphanet epidemiological data:

58
tritanopia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (7q31.3-q32)


HPO:

31
tritanopia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11661
OMIM® 57 190900
ICD9CM 34 368.53
MeSH 44 D003117
SNOMED-CT 67 51886007
ICD10 32 H53.55
ICD10 via Orphanet 33 H53.5
UMLS via Orphanet 71 C0155017
Orphanet 58 ORPHA88629
MedGen 41 C0155017
UMLS 70 C0009398 C0155017 C0242225

Summaries for Tritanopia

Disease Ontology : 12 A color blindness that is characterised by a selective deficiency of blue vision, has material basis in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.

MalaCards based summary : Tritanopia, also known as colorblindness, tritan, is related to optic atrophy 5 and 3-methylglutaconic aciduria, type iii, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. An important gene associated with Tritanopia is OPN1SW (Opsin 1, Short Wave Sensitive), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Phototransduction. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are abnormal retinal morphology and tritanomaly

OMIM® : 57 Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992). (190900) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Tritan color blindness: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.

Wikipedia : 73 Color blindness (color vision deficiency) is the decreased ability to see color or differences in color.... more...

Related Diseases for Tritanopia

Diseases related to Tritanopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 optic atrophy 5 31.8 TMEM126A OPA3
2 3-methylglutaconic aciduria, type iii 29.9 TMEM126A OPN4 OPA3
3 optic nerve disease 29.8 TMEM126A OPN4 OPA3
4 color vision deficiency 29.7 OPN1SW OPN1LW CNGA3
5 retinoschisis 1, x-linked, juvenile 29.2 GNAT2 CNGB3 CNGA3
6 macular degeneration, age-related, 1 29.1 OPN4 GNAT2 CNGB3 CNGA3
7 retinal disease 29.1 OPN1SW OPN1LW CNGB3 CNGA3
8 colorblindness, partial, protan series 28.9 PDE6C OPN1LW GNAT2 CNGB3 CNGA3
9 pathologic nystagmus 28.6 PDE6C OPN1LW GNAT2 CNGB3 CNGA3
10 red-green color blindness 28.2 PDE6H PDE6C OPN1LW GNAT2 CNGB3 CNGA3
11 cone dystrophy 28.2 PDE6H PDE6C OPN1SW OPN1LW GNAT2 CNGB3
12 blue cone monochromacy 28.1 PDE6H PDE6C OPN1LW GNAT2 CNGB3 CNGA3
13 achromatopsia 27.8 PDE6H PDE6C OPN4 OPN1SW OPN1LW GNAT2
14 fundus dystrophy 27.8 PDE6H PDE6C OPN4 OPN1SW OPN1LW GNAT2
15 color blindness 27.8 PDE6H PDE6C OPN4 OPN1SW OPN1LW GNAT2
16 retinitis pigmentosa 27.6 PDE6H PDE6C OPN4 OPN1SW OPN1LW GNAT2
17 anxiety 11.3
18 obsessive-compulsive disorder 11.2
19 panic disorder 11.1
20 asperger syndrome 11.1
21 cone-rod dystrophy, x-linked, 3 11.1
22 bestrophinopathy, autosomal recessive 11.1
23 cone dystrophy 4 11.1
24 cone-rod dystrophy 16 11.1
25 paragangliomas 1 11.0
26 fibromyalgia 10.9
27 body dysmorphic disorder 10.9
28 misophonia 10.9
29 post-traumatic stress disorder 10.6
30 depression 10.6
31 mental depression 10.5
32 generalized anxiety disorder 10.5
33 eating disorder 10.5
34 major depressive disorder 10.5
35 agoraphobia 10.5
36 bulimia nervosa 10.4
37 social phobia 10.4
38 chronic pain 10.4
39 substance abuse 10.3
40 chronic fatigue syndrome 10.3
41 acute stress disorder 10.3
42 disease of mental health 10.3
43 autism spectrum disorder 10.3
44 back pain 10.2
45 autism 10.2
46 dementia 10.2
47 mood disorder 10.2
48 intraocular pressure quantitative trait locus 10.2
49 optic atrophy 6 10.2 TMEM126A OPA3
50 toxic optic neuropathy 10.2 TMEM126A OPA3

Graphical network of the top 20 diseases related to Tritanopia:



Diseases related to Tritanopia

Symptoms & Phenotypes for Tritanopia

Human phenotypes related to Tritanopia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal retinal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000479
2 tritanomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000552
3 color vision test abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0030584
4 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
5 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
6 pendular nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012043
7 dyschromatopsia 31 HP:0007641
8 abnormal light-adapted electroretinogram 31 HP:0008275

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
tritanopia
defective blue and yellow vision
normal red and green vision

Lab:
abnormal blue cone erg

Clinical features from OMIM®:

190900 (Updated 20-May-2021)

UMLS symptoms related to Tritanopia:


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

MGI Mouse Phenotypes related to Tritanopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CNGA3 CNGB3 GNAT2 OPA3 OPN1SW OPN4
2 vision/eye MP:0005391 9.28 CNGA3 CNGB3 GNAT2 OPA3 OPN1LW OPN1SW

Drugs & Therapeutics for Tritanopia

Drugs for Tritanopia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
2
carbamide peroxide Approved Early Phase 1 124-43-6
3 4-phenylbutyric acid Early Phase 1
4 Protective Agents Early Phase 1

Interventional clinical trials:

(show all 20)
# 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 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 Completed NCT03001310 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 and Adults With Achromatopsia Owing to Defects in CNGA3 Recruiting NCT03758404 Phase 1, Phase 2
4 Safety and Efficacy of a Bilateral Single Subretinal Injection of rAAV.hCNGA3 in Adult and Minor Patients With CNGA3-linked Achromatopsia Investigated in a Randomized, Wait List Controlled, Observer-masked Trial Recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
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 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
7 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
8 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
9 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Completed NCT04060238
10 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
11 Prevalence and Severity of Colour Vision Deficiency Among Turkish Children Completed NCT04048499
12 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
13 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study Completed NCT03481764
14 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
15 Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials Recruiting NCT04124185
16 Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT02994030
17 Autostereoscopic Dynamic Near Vision Testing of Acuity, Stereo and Color on PDI Check Recruiting NCT04606355
18 Axicabtagene Ciloleucel:Neurocognitive and Patient-Reported Outcomes Recruiting NCT04319237
19 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
20 Demonstrating Feasibility of Color Vision Deficient Provider Use of EnChroma Products in the Emergency Department Suspended NCT04021914

Search NIH Clinical Center for Tritanopia

Cochrane evidence based reviews: color vision defects

Genetic Tests for Tritanopia

Genetic tests related to Tritanopia:

# Genetic test Affiliating Genes
1 Tritanopia 29 OPN1SW

Anatomical Context for Tritanopia

MalaCards organs/tissues related to Tritanopia:

40
Eye, Retina, Brain, Lung, Breast, Myeloid, Cortex

Publications for Tritanopia

Articles related to Tritanopia:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 57 6 61
1531728 1992
2
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 61 6
1386496 1992
3
Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy. 61 57
3876823 1985
4
The genetics of tritan disturbances. 61 57
3872255 1985
5
Congenital tritanopia without neuroretinal disease. 61 57
4542649 1973
6
Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy. 57 61
5314165 1971
7
The familial distribution of congenital tritanopia, with some remarks on some similar conditions. 57 61
13249225 1955
8
Murine and bovine blue cone pigment genes: cloning and characterization of two new members of the S family of visual pigments. 57
8088841 1994
9
Syntenic assignments of visual transduction genes in cattle. 57
1330890 1992
10
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. 6
2937147 1986
11
Simulating a colour-blind ophthalmologist for diagnosing and staging diabetic retinopathy. 61
33106610 2020
12
Social Perception of Facial Color Appearance for Human Trichromatic Versus Dichromatic Color Vision. 61
30982423 2020
13
Study of a retinal layer model to generate a spike waveform for a color deficient and strabismus individual. 61
30055095 2019
14
The prevalence of color vision deficiency in the northeast of Iran. 61
30899851 2019
15
Delayed S-cone sensitivity losses following the onset of intense yellow backgrounds linked to the lifetime of a photobleaching product? 61
30029223 2018
16
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 61
29559409 2018
17
Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. 61
28191358 2017
18
Small field tritanopia in the peripheral retina. 61
27409678 2016
19
Reduced density of geniculocortical terminals in foveal layer 4A in the macaque primary visual cortex: relationship to S-cone density. 61
25009312 2015
20
Orthogonal relations and color constancy in dichromatic colorblindness. 61
25211128 2014
21
Psychophysical definition of S-cone stimuli in the macaque. 61
23412341 2013
22
A case of bilateral, acquired, and acute dysfunction of short-wavelength-sensitive cone systems. 61
22610143 2012
23
Effects of ageing on postreceptoral short-wavelength gain control: transient tritanopia increases with age. 61
20457174 2010
24
Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. 61
19834041 2010
25
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 61
20157369 2010
26
[The use of optical coherence tomography in hereditary optic neuropathies: description of a family]. 61
18188797 2008
27
Optic Atrophy Type 1 61
20301426 2007
28
[Ocular manifestations in Turner's syndrome]. 61
17621833 2007
29
Transient tritanopia in migraine: evidence for a large-field retinal abnormality in blue-yellow opponent pathways. 61
17065534 2006
30
An effect of luminance contrast on high-spatial-frequency tritanopia. 61
16583763 2006
31
Response saturation of monochromatic increments on intense achromatic backgrounds: implications for color-opponent organization in human vision. 61
16277281 2005
32
Dose-dependency and time-course of electrophysiologic short-term effects of VIAGRA: a case study. 61
16328933 2005
33
One blue colour channel or two? 61
16178144 2005
34
Molecular genetics of colour vision deficiencies. 61
15312026 2004
35
Visual short-term effects of Viagra: double-blind study in healthy young subjects. 61
15126148 2004
36
Effect of foveal tritanopia on reaction times to chromatic stimuli. 61
15518194 2004
37
Extent of foveal tritanopia in diabetes mellitus. 61
12770973 2003
38
Detecting color vision in a malingerer. 61
12678276 2003
39
The role of S-cones in human vision. 61
12675479 2003
40
Serine 85 in transmembrane helix 2 of short-wavelength visual pigments interacts with the retinylidene Schiff base counterion. 61
11735392 2001
41
Filling-in of the foveal blue scotoma. 61
11704235 2001
42
High-spatial-frequency tritanopia: S-filling-in or S-filtering-out? 61
11296503 2001
43
ON and OFF S-cone pathways have different long-wave cone inputs. 61
10915885 2000
44
Tritanopic color matches and the middle- and long-wavelength-sensitive cone spectral sensitivities. 61
10814759 2000
45
Rods induce transient tritanopia in blue cone monochromats. 61
10343809 1999
46
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. 61
10396378 1999
47
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. 61
9514489 1998
48
Parallel increase of heterochromatic increment threshold and postadaptation thresholds in Parkinson's disease and in neuroleptic treatment. 61
9425529 1997
49
The influence of established and new antiepileptic drugs on visual perception. 1. A placebo-controlled, double-blind, single-dose study in healthy volunteers. 61
9416458 1997
50
The influence of established and new antiepileptic drugs on visual perception. II. A controlled study in patients with epilepsy under long-term antiepileptic medication. 61
9416459 1997

Variations for Tritanopia

ClinVar genetic disease variations for Tritanopia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPN1SW NM_001385125.1(OPN1SW):c.260dup (p.Val88fs) Duplication Pathogenic 997466 GRCh37: 7:128415575-128415576
GRCh38: 7:128775521-128775522
2 OPN1SW NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser) SNV Pathogenic 64 rs104894033 GRCh37: 7:128413840-128413840
GRCh38: 7:128773786-128773786
3 OPN1SW NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro) SNV Pathogenic 63 rs104894032 GRCh37: 7:128414599-128414599
GRCh38: 7:128774545-128774545
4 OPN1SW NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg) SNV Pathogenic 62 rs104894031 GRCh37: 7:128415610-128415610
GRCh38: 7:128775556-128775556

UniProtKB/Swiss-Prot genetic disease variations for Tritanopia:

72
# Symbol AA change Variation ID SNP ID
1 OPN1SW p.Gly79Arg VAR_004838 rs104894031
2 OPN1SW p.Ser214Pro VAR_004839 rs104894032
3 OPN1SW p.Pro264Ser VAR_004840 rs104894033
4 OPN1SW p.Thr190Ile VAR_081835 rs119018351

Expression for Tritanopia

Search GEO for disease gene expression data for Tritanopia.

Pathways for Tritanopia

GO Terms for Tritanopia

Cellular components related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.32 OPN1SW GNAT2
2 photoreceptor outer segment membrane GO:0042622 9.26 PDE6H GNAT2
3 transmembrane transporter complex GO:1902495 9.16 CNGB3 CNGA3
4 photoreceptor disc membrane GO:0097381 9.13 OPN4 OPN1SW OPN1LW
5 photoreceptor outer segment GO:0001750 8.92 OPN1SW OPN1LW GNAT2 CNGB3

Biological processes related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 PDE6C OPN4 OPN1SW OPN1LW GNAT2 CNGB3
2 response to stimulus GO:0050896 9.61 PDE6H PDE6C OPN4 OPN1SW OPN1LW OPA3
3 cellular response to light stimulus GO:0071482 9.54 OPN4 OPN1SW OPN1LW
4 protein-chromophore linkage GO:0018298 9.5 OPN4 OPN1SW OPN1LW
5 retinoid metabolic process GO:0001523 9.46 OPN1SW OPN1LW
6 phototransduction GO:0007602 9.46 OPN4 OPN1SW OPN1LW GNAT2
7 retinal cone cell development GO:0046549 9.43 PDE6C GNAT2
8 detection of visible light GO:0009584 9.43 OPN4 OPN1SW OPN1LW
9 visual perception GO:0007601 9.28 PDE6H PDE6C OPN4 OPN1SW OPN1LW OPA3

Molecular functions related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.4 PDE6H PDE6C
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6H PDE6C
3 photoreceptor activity GO:0009881 9.33 OPN4 OPN1SW OPN1LW
4 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGA3
6 cGMP binding GO:0030553 9.26 PDE6H PDE6C CNGB3 CNGA3
7 G protein-coupled photoreceptor activity GO:0008020 8.92 OPN4 OPN1SW OPN1LW GNAT2

Sources for Tritanopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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