Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes-Reference-Cited by-同舟云学术

Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes

Published:2020-08-31 Issue:1 Volume:41 Page:121-134
ISSN:0165-5701
Container-title:International Ophthalmology
language:en
Short-container-title:Int Ophthalmol

Author:

Jinda Worapoj,Tuekprakhon Aekkachai,Thongnoppakhun Wanna,Limwongse Chanin,Trinavarat Adisak,Atchaneeyasakul La-ongsri^ORCID

Funder

Siriraj Foundation

Chalermphrakiat Grant, Faculty of Medicine Siriraj Hospital, Mahidol University

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10792-020-01559-2.pdf

Reference45 articles.

1. Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC (2009) Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 116(10):1984–1989. https://doi.org/10.1016/j.ophtha.2009.03.053

2. Michaelides M, Hunt DM, Moore AT (2004) The cone dysfunction syndromes. Br J Ophthalmol 88(2):291–297. https://doi.org/10.1136/bjo.2003.027102

3. Thomas MG, McLean RJ, Kohl S, Sheth V, Gottlob I (2012) Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. Br J Ophthalmol 96(9):1232–1236. https://doi.org/10.1136/bjophthalmol-2012-301737

4. Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC (2010) Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 51(11):5952–5957. https://doi.org/10.1167/iovs.10-5680

5. Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B (1998) Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 19(3):257–259. https://doi.org/10.1038/935

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1. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia;Human Mutation;2022-04-14