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Color vision deficiency

MedGen UID:
3542
Concept ID:
C0009398
Disease or Syndrome
Synonyms: Color Vision Defect; Color Vision Defects; Color Vision Deficiencies; Color Vision Deficiency; Defect, Color Vision; Defects, Color Vision; Deficiencies, Color Vision; Deficiency, Color Vision; Vision Defect, Color; Vision Defects, Color; Vision Deficiencies, Color; Vision Deficiency, Color
SNOMED CT: Color vision deficiency (367469000)

Definition

Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVColor vision deficiency

Professional guidelines

PubMed

Davison PA, Scanlon G
Optom Vis Sci 2020 Oct;97(10):852-856. doi: 10.1097/OPX.0000000000001582. PMID: 33055513
Heydarian S, Jafari R, Dailami KN, Hashemi H, Jafarzadehpour E, Heirani M, Yekta A, Mahjoob M, Khabazkhoob M
Int Ophthalmol 2020 Feb;40(2):511-527. Epub 2019 Oct 10 doi: 10.1007/s10792-019-01189-3. PMID: 31602527
Tabansi PN, Anochie IC, Nkanginieme KE, Pedro-Egbe CN
Niger J Med 2008 Oct-Dec;17(4):428-32. doi: 10.4314/njm.v17i4.37427. PMID: 19048761

Recent clinical studies

Etiology

Gan J, Li SM, Atchison DA, Kang MT, Wei S, He X, Bai W, Li H, Kang Y, Cai Z, Li L, Jin ZB, Wang N
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):2. doi: 10.1167/iovs.63.2.2. PMID: 35103751Free PMC Article
Chakrabortty K, Wadkar A, Mustaffa HG, Gupta C
J Prosthet Dent 2021 May;125(5):815.e1-815.e9. Epub 2021 Mar 5 doi: 10.1016/j.prosdent.2021.01.033. PMID: 33678442
Varikuti VNV, Zhang C, Clair B, Reynolds AL
J AAPOS 2020 Jun;24(3):157.e1-157.e5. Epub 2020 Jun 1 doi: 10.1016/j.jaapos.2020.03.006. PMID: 32497581
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC
J Glaucoma 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. PMID: 31821182
Owsley C, McGwin G Jr
Surv Ophthalmol 1999 May-Jun;43(6):535-50. doi: 10.1016/s0039-6257(99)00035-1. PMID: 10416796

Diagnosis

Singh AK, Khan MA, Singh A, Maheshwari A
Indian J Ophthalmol 2021 May;69(5):1032-1037. doi: 10.4103/ijo.IJO_2252_20. PMID: 33913828Free PMC Article
Heydarian S, Jafari R, Dailami KN, Hashemi H, Jafarzadehpour E, Heirani M, Yekta A, Mahjoob M, Khabazkhoob M
Int Ophthalmol 2020 Feb;40(2):511-527. Epub 2019 Oct 10 doi: 10.1007/s10792-019-01189-3. PMID: 31602527
Pedersen HR, Hagen LA, Landsend ECS, Gilson SJ, Utheim ØA, Utheim TP, Neitz M, Baraas RC
Invest Ophthalmol Vis Sci 2018 Apr 1;59(5):2142-2152. doi: 10.1167/iovs.17-23047. PMID: 29801149Free PMC Article
Randolph SA
Workplace Health Saf 2013 Jun;61(6):280. doi: 10.1177/216507991306100608. PMID: 23738573
Owsley C, McGwin G Jr
Surv Ophthalmol 1999 May-Jun;43(6):535-50. doi: 10.1016/s0039-6257(99)00035-1. PMID: 10416796

Therapy

Tian Y, Tang H, Kang T, Guo X, Wang J, Zang J
Nano Lett 2022 Mar 9;22(5):2094-2102. Epub 2022 Feb 28 doi: 10.1021/acs.nanolett.2c00262. PMID: 35226508
Tirpack AR, Vanner EA, Sheheitli H, Mendoza CE, Grajewski A, Chang TC
J Glaucoma 2020 Feb;29(2):117-123. doi: 10.1097/IJG.0000000000001416. PMID: 31821182
Heydarian S, Mahjoob M, Gholami A, Veysi S, Mohammadi M
J Optom 2017 Apr-Jun;10(2):130-134. Epub 2016 Mar 15 doi: 10.1016/j.optom.2015.12.007. PMID: 26987544Free PMC Article
Khalaj M, Barikani A, Ghasemi H
Glob J Health Sci 2012 Nov 6;5(1):79-86. doi: 10.5539/gjhs.v5n1p79. PMID: 23283039Free PMC Article
Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JC, Turnpenny PD
Ophthalmology 2002 May;109(5):942-7. doi: 10.1016/s0161-6420(02)00959-4. PMID: 11986102

Prognosis

Balogun MM, Coker OA
Rom J Ophthalmol 2024 Apr-Jun;68(2):99-107. doi: 10.22336/rjo.2024.20. PMID: 39006334Free PMC Article
Gan J, Li SM, Atchison DA, Kang MT, Wei S, He X, Bai W, Li H, Kang Y, Cai Z, Li L, Jin ZB, Wang N
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):2. doi: 10.1167/iovs.63.2.2. PMID: 35103751Free PMC Article
Boehm AE, Bosten J, MacLeod DIA
Vision Res 2021 Nov;188:85-95. Epub 2021 Jul 20 doi: 10.1016/j.visres.2021.05.011. PMID: 34293614
Tregillus KEM, Isherwood ZJ, Vanston JE, Engel SA, MacLeod DIA, Kuriki I, Webster MA
Curr Biol 2021 Mar 8;31(5):936-942.e4. Epub 2020 Dec 15 doi: 10.1016/j.cub.2020.11.039. PMID: 33326771Free PMC Article
Bayer L, Funk J, Töteberg-Harms M
Int Ophthalmol 2020 Mar;40(3):597-605. Epub 2019 Nov 8 doi: 10.1007/s10792-019-01218-1. PMID: 31705359

Clinical prediction guides

Gao H, Kirkendall CD, Kinney MJ, Preston AM, Reddix MD
Mil Med 2023 Jan 4;188(1-2):49-57. doi: 10.1093/milmed/usac080. PMID: 35352814
Bosten JM
Annu Rev Vis Sci 2022 Sep 15;8:101-133. Epub 2022 Jun 16 doi: 10.1146/annurev-vision-093020-112820. PMID: 35709507
Vanston JE, Tregillus KEM, Webster MA, Crognale MA
Vision Res 2021 Jul;184:14-22. Epub 2021 Mar 25 doi: 10.1016/j.visres.2021.02.003. PMID: 33773293Free PMC Article
Varikuti VNV, Zhang C, Clair B, Reynolds AL
J AAPOS 2020 Jun;24(3):157.e1-157.e5. Epub 2020 Jun 1 doi: 10.1016/j.jaapos.2020.03.006. PMID: 32497581
Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JC, Turnpenny PD
Ophthalmology 2002 May;109(5):942-7. doi: 10.1016/s0161-6420(02)00959-4. PMID: 11986102

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