Achromatopsia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/achromatopsia

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.

genetic conditions

References

Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, DollfusH, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. Ahomologous genetic basis of the murine cpfl1 mutant and human achromatopsialinked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009 Nov17;106(46):19581-6. doi: 10.1073/pnas.0907720106.
Deeb SS. The molecular basis of variation in human color vision. Clin Genet.2005 May;67(5):369-77. Review.
Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG,Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit geneGNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug;71(2):422-5.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S,van Genderen MM, Riemslag FC; European Retinal Disease Consortium, Lukowski R,den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsensemutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J HumGenet. 2012 Sep 7;91(3):527-32.
Kohl S, Hamel C. Clinical utility gene card for: Achromatopsia - update 2013. Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.44.
Kohl S, Jägle H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated2018 Sep 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1418/
Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Total colourblindness is caused by mutations in thegene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cationchannel. Nat Genet. 1998 Jul;19(3):257-9.
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. NatGenet. 2000 Jul;25(3):289-93.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, CollinRW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-VerhoevenJJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, CremersFP, Klaver CC. Homozygosity mapping reveals PDE6C mutations in patients withearly-onset cone photoreceptor disorders. Am J Hum Genet. 2009 Aug;85(2):240-7.doi: 10.1016/j.ajhg.2009.06.016.
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-VerhoevenJJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Geneticetiology and clinical consequences of complete and incomplete achromatopsia.Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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