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Achromatopsia (Rod Monochromatism), Gene Defects Causing

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Encyclopedia of Ophthalmology

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Synonyms

Rod monochromacy; Total color blindness

Definition

Autosomal recessive, congenital retinal disease characterized by severely reduced or completely absent color vision, photophobia, nystagmus, reduced visual acuity, and nondetectable cone electroretinograms.

Etiology

Congenital achromatopsia is caused by a disruption in the cone phototransduction cascade. Mutations in the genes encoding the α and β subunits of the cone cyclic nucleotide-gated channel (CNGA3 & CNGB3, respectively), the α subunit of cone transducin (GNAT2), and phosphodiesterase 6C (PDE6C) have been associated with the disease. Over 115 different mutations have been reported. These genes are expressed exclusively in the cone photoreceptor defects in them, which impair the cones’ ability to hyperpolarize in response to light. There is phenotypic variability depending on the genotype, with novel high-resolution imaging tools being used to define the retinal phenotype on a cellular level.

Clinical Presentation

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Further Reading

  • Deeb SS (2004) Molecular genetics of colour vision deficiencies. Clin Exp Optom 87:224–229

    Article  PubMed  Google Scholar 

  • Hess RF, Sharpe LT, Nordby K (eds) (1990) Night vision: basic, clinical and applied aspects. Cambridge University Press, Cambridge, pp 253–334

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  • Kohl S, Varsanyi B, Antunes GA et al (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 13:302–308

    Article  CAS  PubMed  Google Scholar 

  • Nishiguchi KM, Sandberg MA, Gorji N et al (2005) Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditry cone diseases. Hum Mutat 25:248–258

    Article  CAS  PubMed  Google Scholar 

  • Pokorny J, Smith VC, Verriest G, Pinckers AJLG (eds) (1979) Congenital and acquired color vision defects. Grune & Stratton, New York, pp 183–242

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, Eye Institute- Medical College of WI, 935 N. 87th Street, 53226, Milwaukee, WI, USA

    Joseph J. Carroll

Authors
  1. Joseph J. Carroll
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Corresponding author

Correspondence to Joseph J. Carroll .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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© 2013 Springer-Verlag Berlin Heidelberg

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Carroll, J.J. (2013). Achromatopsia (Rod Monochromatism), Gene Defects Causing. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_62-8

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_62-8

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

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