U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Achromatopsia 6(ACHM6)

MedGen UID:
765141
Concept ID:
C3552227
Disease or Syndrome
Synonym: ACHM6
 
Monarch Initiative: MONDO:0800197
OMIM®: 601190; 610024

Definition

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.

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Kohl S, Hamel CP
Eur J Hum Genet 2011 Jun;19(6) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.231. PMID: 21267001Free PMC Article
Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M
Am J Ophthalmol 1989 Jun 15;107(6):624-31. doi: 10.1016/0002-9394(89)90259-6. PMID: 2658617

Recent clinical studies

Etiology

Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S
Retina 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. PMID: 39287548
Brotherton C, Megaw R
Genes (Basel) 2024 Jun 1;15(6) doi: 10.3390/genes15060727. PMID: 38927662Free PMC Article
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M
Am J Ophthalmol 1989 Jun 15;107(6):624-31. doi: 10.1016/0002-9394(89)90259-6. PMID: 2658617
Chanowitz B, Langer EJ
J Pers Soc Psychol 1981 Dec;41(6):1051-63. doi: 10.1037//0022-3514.41.6.1051. PMID: 6975812

Diagnosis

Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Randolph SA
Workplace Health Saf 2013 Jun;61(6):280. doi: 10.1177/216507991306100608. PMID: 23738573
Young B, Eggenberger E, Kaufman D
Curr Opin Ophthalmol 2012 Nov;23(6):497-505. doi: 10.1097/ICU.0b013e328359045e. PMID: 23047167
Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M
Am J Ophthalmol 1989 Jun 15;107(6):624-31. doi: 10.1016/0002-9394(89)90259-6. PMID: 2658617
Regan D
J Opt Soc Am 1977 Nov;67(11):1475-89. doi: 10.1364/josa.67.001475. PMID: 411904

Therapy

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
Mesad S, Laff R, Devinsky O
Epilepsy Behav 2003 Oct;4(5):567-70. doi: 10.1016/j.yebeh.2003.07.012. PMID: 14527501
Rai N, Thuladar L, Brandt F, Arden GB, Berninger TA
Doc Ophthalmol 1998;95(2):99-108. doi: 10.1023/a:1001160413794. PMID: 10431794
Young IS, Goh EM, McKillop UH, Stanford CF, Nicholls DP, Trimble ER
Br J Clin Pharmacol 1991 Dec;32(6):717-21. PMID: 1768564Free PMC Article
Blizzard RM, Harper PS
Birth Defects Orig Artic Ser 1971 May;7(6):324-5. PMID: 5317489

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
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Young B, Eggenberger E, Kaufman D
Curr Opin Ophthalmol 2012 Nov;23(6):497-505. doi: 10.1097/ICU.0b013e328359045e. PMID: 23047167
Rai N, Thuladar L, Brandt F, Arden GB, Berninger TA
Doc Ophthalmol 1998;95(2):99-108. doi: 10.1023/a:1001160413794. PMID: 10431794
Lambert SR, Kriss A, Taylor D, Coffey R, Pembrey M
Am J Ophthalmol 1989 Jun 15;107(6):624-31. doi: 10.1016/0002-9394(89)90259-6. PMID: 2658617

Clinical prediction guides

Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S
Retina 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. PMID: 39287548
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
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Young B, Eggenberger E, Kaufman D
Curr Opin Ophthalmol 2012 Nov;23(6):497-505. doi: 10.1097/ICU.0b013e328359045e. PMID: 23047167
Emery AE
J Med Genet 1988 Jun;25(6):422-6. doi: 10.1136/jmg.25.6.422. PMID: 3294412Free PMC Article

Recent systematic reviews

Tilahun MM, Sema FD, Mengistie BA, Abdulkadir NH, Jara AG
PLoS One 2024;19(12):e0313819. Epub 2024 Dec 4 doi: 10.1371/journal.pone.0313819. PMID: 39630815Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...