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Cone monochromacy

MedGen UID:
868907
•Concept ID:
C4023318
•
Disease or Syndrome
HPO: HP:0011517

Definition

The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone monochromacy

Professional guidelines

PubMed

Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.
Hanna K, Nieves J, Dowd C, Bender KO, Sharma P, Singh B, Renz M, Ver Hoeve JN, Cepeda D, Gelfman CM, Riley BE, Grishanin RN
Mol Ther 2023 Jul 5;31(7):2014-2027. Epub 2023 Mar 16 doi: 10.1016/j.ymthe.2023.03.011. PMID: 36932675Free PMC Article
Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases.
Cideciyan AV, Roman AJ, Jacobson SG, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S
Invest Ophthalmol Vis Sci 2016 Jun 1;57(7):3211-21. doi: 10.1167/iovs.16-19586. PMID: 27309625Free PMC Article
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ
Hum Mutat 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679. PMID: 25168334Free PMC Article

Recent clinical studies

Etiology

S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.
Righetti G, Kempf M, Kohl S, Wissinger B, Kühlewein L, Stingl K, Stingl K
Doc Ophthalmol 2024 Aug;149(1):11-21. Epub 2024 Jun 14 doi: 10.1007/s10633-024-09981-y. PMID: 38871951Free PMC Article
Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.
Hanna K, Nieves J, Dowd C, Bender KO, Sharma P, Singh B, Renz M, Ver Hoeve JN, Cepeda D, Gelfman CM, Riley BE, Grishanin RN
Mol Ther 2023 Jul 5;31(7):2014-2027. Epub 2023 Mar 16 doi: 10.1016/j.ymthe.2023.03.011. PMID: 36932675Free PMC Article
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL
Transl Vis Sci Technol 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. PMID: 36692456Free PMC Article
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Khateb S, Shemesh A, Offenheim A, Sheffer R, Ben-Yosef T, Chowers I, Leibu R, Baumann B, Wissinger B, Kohl S, Banin E, Sharon D
Mol Vis 2022;28:21-28. Epub 2022 Feb 22 PMID: 35400991Free PMC Article

Diagnosis

Ocular genetics in the Japanese population.
Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL
Transl Vis Sci Technol 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. PMID: 36692456Free PMC Article
Foveal Cone Structure in Patients With Blue Cone Monochromacy.
Patterson EJ, Kalitzeos A, Kane TM, Singh N, Kreis J, Pennesi ME, Hardcastle AJ, Neitz J, Neitz M, Michaelides M, Carroll J
Invest Ophthalmol Vis Sci 2022 Oct 3;63(11):23. doi: 10.1167/iovs.63.11.23. PMID: 36301530Free PMC Article
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG
PLoS One 2015;10(4):e0125700. Epub 2015 Apr 24 doi: 10.1371/journal.pone.0125700. PMID: 25909963Free PMC Article

Therapy

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.
Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL
Transl Vis Sci Technol 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. PMID: 36692456Free PMC Article
Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial.
Semenov EP, Sheplock R, Roman AJ, McGuigan DB, Swider M, Cideciyan AV, Jacobson SG
Transl Vis Sci Technol 2020 Dec;9(13):13. Epub 2020 Dec 8 doi: 10.1167/tvst.9.13.13. PMID: 33344057Free PMC Article
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG
PLoS One 2015;10(4):e0125700. Epub 2015 Apr 24 doi: 10.1371/journal.pone.0125700. PMID: 25909963Free PMC Article

Prognosis

Ocular genetics in the Japanese population.
Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Cai B, Li Z, Sun S, Wang L, Chen L, Yang J, Li X
Ophthalmic Genet 2019 Feb;40(1):43-48. Epub 2019 Jan 7 doi: 10.1080/13816810.2018.1561902. PMID: 30614359
Blue cone monochromacy: causative mutations and associated phenotypes.
Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
Mol Vis 2009;15:876-84. Epub 2009 May 1 PMID: 19421413Free PMC Article
Molecular genetics of colour vision deficiencies.
Deeb SS
Clin Exp Optom 2004 Jul;87(4-5):224-9. doi: 10.1111/j.1444-0938.2004.tb05052.x. PMID: 15312026
Genetic heterogeneity among blue-cone monochromats.
Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR
Am J Hum Genet 1993 Nov;53(5):987-1000. PMID: 8213841Free PMC Article

Clinical prediction guides

Ocular genetics in the Japanese population.
Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
Vitritis in pediatric genetic retinal disorders.
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV
Ophthalmology 2015 Jan;122(1):192-9. Epub 2014 Sep 10 doi: 10.1016/j.ophtha.2014.07.037. PMID: 25217415Free PMC Article
Blue cone monochromacy: causative mutations and associated phenotypes.
Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ
Mol Vis 2009;15:876-84. Epub 2009 May 1 PMID: 19421413Free PMC Article
Molecular genetics of color-vision deficiencies.
Deeb SS
Vis Neurosci 2004 May-Jun;21(3):191-6. doi: 10.1017/s0952523804213244. PMID: 15518188

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