1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
Journal Details
License
Format
Journal
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

Genetic testing for achromatopsia

Published Online: 27 Oct 2017
Page range: 11 - 13
Journal Details
License
Format
Journal
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in the CNGB3, CNGA3, GNAT2, PDE6C, ATF6 and PDE6H genes. Clinical diagnosis is by ophthalmological examination, color vision testing and electrophysiological testing. Genetic testing is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

1. Kohl S, Hamel C. Clinical utility gene card for: Achromatopsia - update 2013. Eur J Hum Genet. 2013 Nov;21(11). PubMed PMID: 23486539; PubMed Central PMCID: PMC3798849. Epub 2013/03/13.Search in Google Scholar

2. Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, et al. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA Ophthalmol. 2014 Apr 1; 132(4):437-45. PubMed PMID: 24504161; PubMed Central PMCID: PMC4423754.Search in Google Scholar

3. Pang JJ, Alexander J, Lei B, Deng W, Zhang K, Li Q, Chang B, et al. Achromatopsia as a potential candidate for gene therapy. Adv Exp Med Biol. 2010; 664:639-46. PubMed PMID: 20238068; PubMed Central PMCID: PMC3608407.Search in Google Scholar

4. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002 Aug; 71(2):422-5. PubMed PMID: 12077706; PubMed Central PMCID: PMC379175. Epub 2002/06/20.Search in Google Scholar

5. Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, et al. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. J Hum Genet. 2011 Jan;56(1):22-8. PubMed PMID: 21107338. Epub 2010/09/25. Search in Google Scholar

6. Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar; 13(3):302-8. PubMed PMID: 15657609.Search in Google Scholar

7. Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001 Oct; 69(4):722-37. PubMed PMID: 11536077; PubMed Central PMCID: PMC1226059. Epub 2001/08/30.Search in Google Scholar

8. Kohl S, Jägle H, Wissinger B. Achromatopsia. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, TD Bird et al. GeneReviews®. Seattle (WA):1993-2017.Search in Google Scholar

9. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009 Jun 12; 58(RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

10. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.Search in Google Scholar

Recommended articles from Trend MD

Plan your remote conference with Sciendo