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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
Hathibelagal AR
Indian J Ophthalmol 2022 Jan;70(1):256-260. doi: 10.4103/ijo.IJO_1100_21. PMID: 34937250Free PMC Article
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
Pouw A, Karanjia R, Sadun A
Graefes Arch Clin Exp Ophthalmol 2017 Mar;255(3):613-618. Epub 2016 Dec 21 doi: 10.1007/s00417-016-3570-0. PMID: 28004196
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

Diagnosis

Flotte TJ, Cornell LD
Am J Clin Pathol 2022 Oct 6;158(4):516-520. doi: 10.1093/ajcp/aqac081. PMID: 35913114
Kumar M, Mahaseth A, Parveen S, Rafeeq U, Chauhan L
Indian J Ophthalmol 2022 Jun;70(6):2112-2116. doi: 10.4103/ijo.IJO_2510_21. PMID: 35647994Free PMC Article
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
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

Therapy

Lo G, Ng JS
Optom Vis Sci 2023 Feb 1;100(2):158-163. Epub 2023 Jan 18 doi: 10.1097/OPX.0000000000001991. PMID: 36649587
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
Fattahi F, Khabazkhoob M, Jafarzadehpour E, Mirzajani A, Yekta A
Rom J Ophthalmol 2020 Jan-Mar;64(1):43-49. PMID: 32292857Free PMC Article
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
Momeni-Moghaddam H, Ng JS, Robabi H, Yaghubi F
Optom Vis Sci 2014 Nov;91(11):1372-6. doi: 10.1097/OPX.0000000000000393. PMID: 25237763

Prognosis

Liang J, Tian P, Wang J, Fan S, Deng X, Zhang J, Zhang J, Wang M, Zeng P
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2669-2678. Epub 2023 Apr 27 doi: 10.1007/s00417-023-06062-9. PMID: 37103624
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
Lin HY, Chen LQ, Wang ML
Sensors (Basel) 2019 May 15;19(10) doi: 10.3390/s19102250. PMID: 31096676Free PMC Article
Stoianov M, de Oliveira MS, Dos Santos Ribeiro Silva MCL, Ferreira MH, de Oliveira Marques I, Gualtieri M
Qual Life Res 2019 Apr;28(4):855-862. Epub 2018 Nov 15 doi: 10.1007/s11136-018-2030-1. PMID: 30443703

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