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Red-green dyschromatopsia(DCB)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Red-green color blindness
SNOMED CT: Red-green color blindness (246674000); Reduced red-green vision (246674000); Reduced red-green discrimination (246674000)
Related genes: OPN1LW, OPN1MW
HPO: HP:0000642
Monarch Initiative: MONDO:0010564
OMIM®: 303800
Orphanet: ORPHA319698


Difficulty with discriminating red and green hues. [from HPO]

Conditions with this feature

Autosomal dominant optic atrophy classic form
MedGen UID:
Concept ID:
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 6
MedGen UID:
Concept ID:
Disease or Syndrome
Retinitis pigmentosa 37
MedGen UID:
Concept ID:
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:
Concept ID:
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).
Macular dystrophy with central cone involvement
MedGen UID:
Concept ID:
Disease or Syndrome
Optic atrophy 9
MedGen UID:
Concept ID:
Disease or Syndrome
Optic atrophy-9 (OPA9) is characterized by onset of decreased visual acuity and optic disc pallor in the first decade of life, with severely reduced visual acuity and color vision deficits observed in the third decade. Although initially described as an autosomal recessive disease (Metodiev et al., 2014; Kelman et al., 2018; Gibson et al., 2020), autosomal dominant cases of OPA9 have also been reported (Charif et al., 2021). Mutation in the ACO2 gene also causes a neurodegenerative disorder, infantile cerebellar-retinal degeneration (ICRD; 614559), of which optic atrophy is a feature. Dominant and Recessive OPA9 From a cohort of approximately 1,000 patients with optic atrophy, Charif et al. (2021) identified 50 probands with dominant mutations in the ACO2 gene, and 11 patients with biallelic variants. There was no significant difference in distribution of mutation type, with two-thirds of all variants being missense mutations in both groups, and nonsense, frameshift, and splice site mutations comprising the remaining third. Age at onset of symptoms occurred during the first 2 decades, without significant difference between dominant and recessive cases. Visual acuity was significantly more affected in recessive cases than in dominant ones, with more than 60% of eyes from the recessive group having a visual acuity lower than 20/200, whereas more than 80% of eyes from the dominant group had a visual acuity above 20/200. Analysis of the optic disc as well as retinal nerve fiber layer thickness measurements indicated a preferential involvement of the temporal quadrant in both patient groups. Assessment of color vision revealed highly variable alterations, including protan, deutan, and tritan types of dyschromatopsia. Some patients had additional retinal changes, including macular microcysts as well as macular dystrophy in 1 case. Extraocular symptoms were observed in 6 (12%) of the dominant cases and in 3 (27%) of the recessive cases, including hearing impairment in 2 dominant cases, and late-onset cerebellar ataxia in 1 dominant case and in 1 recessive case.

Professional guidelines


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
Chakrabarti S
Natl Med J India 2018 Mar-Apr;31(2):86-96. doi: 10.4103/0970-258X.253167. PMID: 30829224
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


Noble KG
Am J Ophthalmol 1977 Sep;84(3):310-8. doi: 10.1016/0002-9394(77)90670-5. PMID: 900227


Godel V, Nemet P, Lazar M
Arch Ophthalmol 1980 Aug;98(8):1417-21. doi: 10.1001/archopht.1980.01020040269011. PMID: 7417077

Clinical prediction guides

Godel V, Nemet P, Lazar M
Arch Ophthalmol 1980 Aug;98(8):1417-21. doi: 10.1001/archopht.1980.01020040269011. PMID: 7417077

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