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Achromatopsia 5(ACHM5)

MedGen UID:
416519
Concept ID:
C2751309
Disease or Syndrome
Synonym: ACHM5
 
Monarch Initiative: MONDO:0800196
OMIM®: 600827; 613093

Definition

Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.

Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.

Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Sun W, Li S, Xiao X, Wang P, Zhang Q
Mol Vis 2020;26:588-602. Epub 2020 Aug 22 PMID: 32913385Free PMC Article
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
Deeb SS, Lindsey DT, Hibiya Y, Sanocki E, Winderickx J, Teller DY, Motulsky AG
Am J Hum Genet 1992 Oct;51(4):687-700. PMID: 1415215Free PMC Article

Recent clinical studies

Etiology

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
Choi YJ, Joo K, Lim HT, Kim SS, Han J, Woo SJ
Genes (Basel) 2023 Feb 18;14(2) doi: 10.3390/genes14020519. PMID: 36833446Free PMC Article
Eghrari AO, Bishop RJ, Ross RD, Davis B, Larbelee J, Amegashie F, Dolo RF, Prakalapakorn SG, Gaisie C, Gargu C, Sosu Y, Sackor J, Cooper PZ, Wallace A, Nyain R, Gray M, Kamara F, Burkholder B, Brady CJ, Ray V, Tawse KL, Yeung I, Neaton JD, Higgs ES, Lane HC, Reilly C, Sneller MC, Fallah MP
JAMA Netw Open 2021 Jan 4;4(1):e2032216. doi: 10.1001/jamanetworkopen.2020.32216. PMID: 33399856Free PMC Article
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2019 Dec 2;60(15):5112-5123. doi: 10.1167/iovs.19-27761. PMID: 31826238Free PMC Article
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ
Ophthalmology 2012 Apr;119(4):819-26. Epub 2012 Jan 20 doi: 10.1016/j.ophtha.2011.10.011. PMID: 22264887

Diagnosis

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
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
Fanlo Zarazaga A, Gutiérrez Vásquez J, Pueyo Royo V
Arch Soc Esp Oftalmol (Engl Ed) 2019 Jan;94(1):25-32. Epub 2018 Oct 22 doi: 10.1016/j.oftal.2018.08.006. PMID: 30361001
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
Safi H, Safi S, Hafezi-Moghadam A, Ahmadieh H
Surv Ophthalmol 2018 Sep-Oct;63(5):601-608. Epub 2018 Apr 19 doi: 10.1016/j.survophthal.2018.04.003. PMID: 29679616

Therapy

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
Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2023 Sep;253:243-251. Epub 2023 May 11 doi: 10.1016/j.ajo.2023.05.009. PMID: 37172884
Jafari R, Heydarian S, Karami H, Shektaei MM, Dailami KN, Amiri AA, Rezaee MR, Far AA
Indian J Ophthalmol 2015 Sep;63(9):710-5. doi: 10.4103/0301-4738.170986. PMID: 26632126Free PMC Article
Park DH, Park TK, Ohn YH, Park JS, Chang JH
Doc Ophthalmol 2015 Dec;131(3):237-44. Epub 2015 Nov 3 doi: 10.1007/s10633-015-9518-6. PMID: 26526593
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article

Prognosis

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
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
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M
Invest Ophthalmol Vis Sci 2019 Dec 2;60(15):5112-5123. doi: 10.1167/iovs.19-27761. PMID: 31826238Free PMC Article
Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M
Ophthalmology 2014 Jan;121(1):234-245. Epub 2013 Oct 20 doi: 10.1016/j.ophtha.2013.08.017. PMID: 24148654Free PMC Article
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC
Ophthalmology 2009 Oct;116(10):1984-9.e1. Epub 2009 Jul 9 doi: 10.1016/j.ophtha.2009.03.053. PMID: 19592100

Clinical prediction guides

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
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
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Chiquet C, Berthemy-Pellet S, Altayrac-Bethenod J, Aptel F, Labarere J, Quesada JL, Gallice M, Tonini M, Khayi H, Romanet JP
Retina 2015 Jun;35(6):1256-65. doi: 10.1097/IAE.0000000000000437. PMID: 25635576
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

Recent systematic reviews

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article

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