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Tritanopia(CBT)

MedGen UID:
57827
Concept ID:
C0155017
Disease or Syndrome
Synonyms: BLUE COLORBLINDNESS; COLORBLINDNESS, TRITAN; COLORBLINDNESS, TRITANOPIC
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Tritanopia (85049009); Tritan defect (51886007); Tritanomaly (51886007)
 
Gene (location): OPN1SW (7q32.1)
OMIM®: 190900
HPO: HP:0000552
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 GHR
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.  https://ghr.nlm.nih.gov/condition/color-vision-deficiency

Clinical features

Tritanopia
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).
Abnormal light-adapted electroretinogram
MedGen UID:
870271
Concept ID:
C4024712
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTritanopia

Conditions with this feature

Tritanopia
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).
Dominant hereditary optic atrophy
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.
Autosomal dominant optic atrophy plus syndrome
MedGen UID:
377632
Concept ID:
C1852267
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).
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

Recent clinical studies

Etiology

Tibber MS, Shepherd AJ
Invest Ophthalmol Vis Sci 2006 Nov;47(11):5125-31. doi: 10.1167/iovs.06-0393. PMID: 17065534
Jägle H, Jägle C, Sèrey L, Sharpe LT
Doc Ophthalmol 2005 Mar-May;110(2-3):247-54. doi: 10.1007/s10633-005-0653-3. PMID: 16328933
Parry NR, Plainis S, Murray IJ, McKeefry DJ
Vis Neurosci 2004 May-Jun;21(3):237-42. PMID: 15518194
Jägle H, Jägle C, Sérey L, Yu A, Rilk A, Sadowski B, Besch D, Zrenner E, Sharpe LT
Am J Ophthalmol 2004 May;137(5):842-9. doi: 10.1016/j.ajo.2003.11.081. PMID: 15126148
Miyake Y, Yagasaki K, Ichikawa H
Arch Ophthalmol 1985 Oct;103(10):1496-501. PMID: 3876823

Diagnosis

Volbrecht VJ
J Opt Soc Am A Opt Image Sci Vis 2016 Jul 1;33(7):1226-35. PMID: 27409678
Werner A, Bayer A, Schwarz G, Zrenner E, Paulus W
Vision Res 2010 Aug 6;50(17):1641-8. Epub 2010 May 8 doi: 10.1016/j.visres.2010.05.004. PMID: 20457174
Tibber MS, Shepherd AJ
Invest Ophthalmol Vis Sci 2006 Nov;47(11):5125-31. doi: 10.1167/iovs.06-0393. PMID: 17065534
Parry NR, Plainis S, Murray IJ, McKeefry DJ
Vis Neurosci 2004 May-Jun;21(3):237-42. PMID: 15518194
Logvinenko AD
Perception 2001;30(2):223-32. doi: 10.1068/p2846. PMID: 11296503

Therapy

Jägle H, Jägle C, Sèrey L, Sharpe LT
Doc Ophthalmol 2005 Mar-May;110(2-3):247-54. doi: 10.1007/s10633-005-0653-3. PMID: 16328933
Jägle H, Jägle C, Sérey L, Yu A, Rilk A, Sadowski B, Besch D, Zrenner E, Sharpe LT
Am J Ophthalmol 2004 May;137(5):842-9. doi: 10.1016/j.ajo.2003.11.081. PMID: 15126148
Haug BA, Hermsteiner EM, Bandelow B, Paulus W
Vision Res 1997 Dec;37(24):3535-47. doi: 10.1016/S0042-6989(97)00089-8. PMID: 9425529
Steinhoff BJ, Freudenthaler N, Paulus W
Epilepsy Res 1997 Dec;29(1):35-47. PMID: 9416458
Tuck JP, Long GM
Ophthalmic Physiol Opt 1990 Apr;10(2):195-9. PMID: 2371065

Prognosis

Gallus GN, Cardaioli E, Rufa A, Da Pozzo P, Bianchi S, D'Eramo C, Collura M, Tumino M, Pavone L, Federico A
Mol Vis 2010 Feb 10;16:178-83. PMID: 20157369Free PMC Article
Jägle H, Jägle C, Sèrey L, Sharpe LT
Doc Ophthalmol 2005 Mar-May;110(2-3):247-54. doi: 10.1007/s10633-005-0653-3. PMID: 16328933
Knoblauch K
J Opt Soc Am A 1993 Feb;10(2):378-81. PMID: 8478749
Mollon JD, Stockman A, Polden PG
Vision Res 1987;27(4):637-50. PMID: 3660624
Alpern M
Am J Optom Physiol Opt 1976 Jul;53(7):340-9. PMID: 1085566

Clinical prediction guides

Davies N, Morland A
Br J Ophthalmol 2003 Jun;87(6):742-6. PMID: 12770973Free PMC Article
Knoblauch K
J Opt Soc Am A 1993 Feb;10(2):378-81. PMID: 8478749
Tuck JP, Long GM
Ophthalmic Physiol Opt 1990 Apr;10(2):195-9. PMID: 2371065
Alpern M, Kitahara K, Krantz DH
J Physiol 1983 Feb;335:683-97. PMID: 6603509Free PMC Article
Alpern M
Am J Optom Physiol Opt 1976 Jul;53(7):340-9. PMID: 1085566

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