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Blue color blindness(CBT)

MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Synonyms: BLUE COLORBLINDNESS; COLORBLINDNESS, TRITAN; COLORBLINDNESS, TRITANOPIC; Tritanomaly; Tritanopia
SNOMED CT: Tritanopia (85049009); Tritan defect (51886007); Tritanomaly (51886007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): OPN1SW (7q32.1)
 
HPO: HP:0000552
Monarch Initiative: MONDO:0008610
OMIM®: 190900
Orphanet: ORPHA88629

Definition

Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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).  https://medlineplus.gov/genetics/condition/color-vision-deficiency

Clinical features

From HPO
Blue color blindness
MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Color vision defect
MedGen UID:
115964
Concept ID:
C0234629
Finding
An anomaly in the ability to discriminate between or recognize colors.
Dyschromatopsia
MedGen UID:
163559
Concept ID:
C0858618
Disease or Syndrome
A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
Abnormal light-adapted electroretinogram
MedGen UID:
870271
Concept ID:
C4024712
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBlue color blindness

Conditions with this feature

Blue color blindness
MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Autosomal dominant optic atrophy classic form
MedGen UID:
137902
Concept ID:
C0338508
Disease or Syndrome
Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only). Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent.
Optic atrophy 5
MedGen UID:
377837
Concept ID:
C1853139
Disease or Syndrome
OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
Retinitis pigmentosa 37
MedGen UID:
410004
Concept ID:
C1970163
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
MedGen UID:
478179
Concept ID:
C3276549
Disease or Syndrome
Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).
Progressive retinal dystrophy due to retinol transport defect
MedGen UID:
767507
Concept ID:
C3554593
Disease or Syndrome
Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.
Cone-rod dystrophy 20
MedGen UID:
863293
Concept ID:
C4014856
Disease or Syndrome
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).
Night blindness, congenital stationary, type1i
MedGen UID:
1684817
Concept ID:
C5231408
Disease or Syndrome
Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018).
Chromosome 16q12 duplication syndrome
MedGen UID:
1794292
Concept ID:
C5562082
Disease or Syndrome
Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021). Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900).

Professional guidelines

PubMed

Poonam NS, Alam MS, Oberoi P, Mukherjee B
Indian J Ophthalmol 2022 Dec;70(12):4419-4426. doi: 10.4103/ijo.IJO_719_22. PMID: 36453357Free PMC Article
Zhang F, Kurokawa K, Bernucci MT, Jung HW, Lassoued A, Crowell JA, Neitz J, Neitz M, Miller DT
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):8. doi: 10.1167/iovs.62.2.8. PMID: 33544131Free PMC Article
Pascual-Camps I, Barranco-Gonzalez H, Aviñó-Martínez J, Silva E, Harto-Castaño M
J Pediatr Ophthalmol Strabismus 2018 Mar 1;55(2):85-92. Epub 2017 Dec 19 doi: 10.3928/01913913-20171117-01. PMID: 29257187

Recent clinical studies

Etiology

El Moussawi Z, Boueiri M, Al-Haddad C
Int Ophthalmol 2021 May;41(5):1917-1927. Epub 2021 Feb 2 doi: 10.1007/s10792-021-01717-0. PMID: 33528822

Diagnosis

Rajalakshmi T, Prince S
Proc Inst Mech Eng H 2017 Apr;231(4):276-285. Epub 2017 Feb 14 doi: 10.1177/0954411917690762. PMID: 28195004

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