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Monochromatopsia

MedGen UID:
148222
•Concept ID:
C0751043
•
Disease or Syndrome

Professional guidelines

PubMed

Dysthyroid optic neuropathy: Demographics, risk factors, investigations, and management outcomes.
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
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.
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

Etiology

Learning to be a colour-blind doctor.
Jose MD
Intern Med J 2024 Oct;54(10):1757-1759. Epub 2024 Aug 29 doi: 10.1111/imj.16509. PMID: 39207226
Rod Monochromatism (Achromatopsia).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. PMID: 30578497
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Clinical colour vision tests.
Dain SJ
Clin Exp Optom 2004 Jul;87(4-5):276-93. doi: 10.1111/j.1444-0938.2004.tb05057.x. PMID: 15312031
Chromatopsia.
Pinckers A, Cruysberg JR, Liem TA
Doc Ophthalmol 1989 Aug;72(3-4):385-90. doi: 10.1007/BF00153507. PMID: 2625099

Diagnosis

Gene therapy for achromatopsia.
Michalakis S, Schön C, Becirovic E, Biel M
J Gene Med 2017 Mar;19(3) doi: 10.1002/jgm.2944. PMID: 28095637
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Achromatopsia: on the doorstep of a possible therapy.
Zobor D, Zobor G, Kohl S
Ophthalmic Res 2015;54(2):103-8. Epub 2015 Aug 21 doi: 10.1159/000435957. PMID: 26304472
Color vision testing.
Melamud A, Hagstrom S, Traboulsi E
Ophthalmic Genet 2004 Sep;25(3):159-87. doi: 10.1080/13816810490498341. PMID: 15512994
Colour blindness.
Gordon N
Public Health 1998 Mar;112(2):81-4. doi: 10.1038/sj.ph.1900446. PMID: 9581449

Therapy

Gene Therapy for Achromatopsia.
Baxter MF, Borchert GA
Int J Mol Sci 2024 Sep 9;25(17) doi: 10.3390/ijms25179739. PMID: 39273686Free PMC Article
Dysthyroid Optic Neuropathy.
Potvin ARGG, Pakdel F, Saeed P
Ophthalmic Plast Reconstr Surg 2023 Dec 1;39(6S):S65-S80. Epub 2023 Dec 4 doi: 10.1097/IOP.0000000000002555. PMID: 38054987
Gene Therapy for Color Blindness.
Hassall MM, Barnard AR, MacLaren RE
Yale J Biol Med 2017 Dec;90(4):543-551. Epub 2017 Dec 19 PMID: 29259520Free PMC Article
Gene therapy for achromatopsia.
Michalakis S, Schön C, Becirovic E, Biel M
J Gene Med 2017 Mar;19(3) doi: 10.1002/jgm.2944. PMID: 28095637
Retinal abnormalities in β-thalassemia major.
Bhoiwala DL, Dunaief JL
Surv Ophthalmol 2016 Jan-Feb;61(1):33-50. Epub 2015 Aug 29 doi: 10.1016/j.survophthal.2015.08.005. PMID: 26325202Free PMC Article

Prognosis

Normal and abnormal foveal development.
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK
Int J Mol Sci 2021 Apr 26;22(9) doi: 10.3390/ijms22094534. PMID: 33926102Free PMC Article
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Short-wavelength automated perimetry.
Racette L, Sample PA
Ophthalmol Clin North Am 2003 Jun;16(2):227-36, vi-vii. doi: 10.1016/s0896-1549(03)00010-5. PMID: 12809160
A randomized, controlled trial of corticosteroids in the treatment of acute optic neuritis. The Optic Neuritis Study Group.
Beck RW, Cleary PA, Anderson MM Jr, Keltner JL, Shults WT, Kaufman DI, Buckley EG, Corbett JJ, Kupersmith MJ, Miller NR
N Engl J Med 1992 Feb 27;326(9):581-8. doi: 10.1056/NEJM199202273260901. PMID: 1734247

Clinical prediction guides

Color Vision in the Mountains.
Lankford HV, Hovis JK
Wilderness Environ Med 2023 Dec;34(4):610-617. Epub 2023 Sep 27 doi: 10.1016/j.wem.2023.08.003. PMID: 37775373
Rod Monochromatism (Achromatopsia).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. PMID: 30578497
Visualizing Visual Adaptation.
Webster MA, Tregillus KEM
J Vis Exp 2017 Apr 24;(122) doi: 10.3791/54038. PMID: 28518063Free PMC Article
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M
Br J Ophthalmol 2016 Jan;100(1):115-21. Epub 2015 Mar 13 doi: 10.1136/bjophthalmol-2014-306505. PMID: 25770143Free PMC Article
Acquired dyschromatopsias.
Hart WM Jr
Surv Ophthalmol 1987 Jul-Aug;32(1):10-31. doi: 10.1016/0039-6257(87)90070-1. PMID: 3310294

Recent systematic reviews

Low-level occupational exposure to BTEX and dyschromatopsia: a systematic review and meta-analysis.
Sohrabi Y, Rahimian F, Soleimani E, Hassanipour S
Int J Occup Saf Ergon 2024 Mar;30(1):9-19. Epub 2023 Jan 27 doi: 10.1080/10803548.2022.2157543. PMID: 36502281
The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.
Britten-Jones AC, Jin R, Gocuk SA, Cichello E, O'Hare F, Hickey DG, Edwards TL, Ayton LN
Genet Med 2022 Mar;24(3):521-534. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.013. PMID: 34906485
Occupational styrene exposure and acquired dyschromatopsia: A systematic review and meta-analysis.
Choi AR, Braun JM, Papandonatos GD, Greenberg PB
Am J Ind Med 2017 Nov;60(11):930-946. Epub 2017 Aug 24 doi: 10.1002/ajim.22766. PMID: 28836685Free PMC Article
Impaired colour vision in workers exposed to organic solvents: A systematic review.
Betancur-Sánchez AM, Vásquez-Trespalacios EM, Sardi-Correa C
Arch Soc Esp Oftalmol 2017 Jan;92(1):12-18. Epub 2016 Jul 13 doi: 10.1016/j.oftal.2016.05.008. PMID: 27422480
Consistency of secondary colour vision tests in transport industries.
Bailey KGH, Carter T
Occup Med (Lond) 2016 Jun;66(4):268-275. doi: 10.1093/occmed/kqw012. PMID: 27162253

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