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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

Arnegard S, Baraas RC, Neitz J, Hagen LA, Neitz M
Acta Ophthalmol 2022 Nov;100(7):805-812. Epub 2022 Feb 3 doi: 10.1111/aos.15103. PMID: 35113505Free PMC Article
Sun W, Li S, Xiao X, Wang P, Zhang Q
Mol Vis 2020;26:588-602. Epub 2020 Aug 22 PMID: 32913385Free PMC Article
Jeon C, Shin JH, Woo KI, Kim YD
Korean J Ophthalmol 2012 Apr;26(2):73-9. Epub 2012 Mar 22 doi: 10.3341/kjo.2012.26.2.73. PMID: 22511831Free 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
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
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free 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
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

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
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free PMC Article
Gottlob I
Curr Opin Ophthalmol 2001 Oct;12(5):378-83. doi: 10.1097/00055735-200110000-00010. PMID: 11588502
Alpern M, Kitahara K, Krantz DH
J Physiol 1983 Feb;335:655-81. doi: 10.1113/jphysiol.1983.sp014557. PMID: 6603508Free PMC Article

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
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
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
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free 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

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
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free 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
Gottlob I
Curr Opin Ophthalmol 2000 Oct;11(5):330-5. doi: 10.1097/00055735-200010000-00007. PMID: 11148698

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
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B
JAMA Ophthalmol 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. PMID: 32352493Free PMC Article
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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