Achromatopsia

Kohl, Susanne

doi:10.1007/978-3-540-29676-8_3205

Susanne Kohl²

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Synonyms

Rod monochromatism; Rod monochromacy; Total colorblindness; Pingelapese blindness

Definition and Characteristics

Achromatopsia is a rare autosomal recessively inherited disorder of the retina, characterized by nonprogressive low vision from early infancy, pendular nystagmus, photophobia, loss of color discrimination, absent photopic, but normal scotopic electroretinographic (ERG) responses.

Most individuals have complete achromatopsia with total lack of function of all three types of cone photoreceptors. Rarely, individuals have incomplete achromatopsia, in which symptoms are less severe.

Prevalence

Estimated prevalence is less than 1:30,000 [1]. On the island of Pingelap in Micronesia, the prevalence of achromatopsia or ‘Pingelapese blindness’ is between 1:25 and 1:100 [2], secondary to gene drift and the founder mutation S435F in the CNGB3 gene.

Genes

CNGA3 (ACHM2 locus; OMIM *600053, #216900) on Chr. 2q11.2 encodes the alpha-subunit of the cyclic nucleotide-gated channel 3...

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References

Francois J (1961) Heredity in Ophthalmology. CV Mosby, St. Louis
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Hussels IE Morton NE (1972) Pingelap and Mokil Atolls: achromatopsia. Am J Hum Genet 24:304–309
PubMed CAS Google Scholar
Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B (1998) Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19:257–259
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Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B (2000) Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 9:2107–2116
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Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 71:422–425
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Authors and Affiliations

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany
Susanne Kohl

Authors

Susanne Kohl
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Editors and Affiliations

Institute of Physiology, University of Tuebingen, Tuebingen, Germany
Florian Lang (Prof.) (Prof.)

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Kohl, S. (2009). Achromatopsia. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_3205

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DOI: https://doi.org/10.1007/978-3-540-29676-8_3205
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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