1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

Genetic testing for gyrate atrophy of the choroid and retina

Published Online: 27 Oct 2017
Volume & Issue: Volume 1 (2017) - Issue s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Page range: 54 - 56
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for gyrate atrophy of the choroid and retina (GACR). GACR is inherited in an autosomal recessive manner, and has a prevalence of 1/50000 in Finland. In the international literature there are approximately 200 biochemically confirmed cases. GACR is caused by mutations in the OAT gene. Clinical diagnosis involves ophthalmological examination, electrophysiological testing (electroretinography - ERG), coherence tomography and assay of ornithine levels in body fluids. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

1. Peltola KE, Jääskeläinen S, Heinonen OJ, Falck B, Näntö-Salonen K, Heinänen K, et al. Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. Neurology. 2002 Sep 10;59(5):735-40. PubMed PMID: 12221166.10.1212/WNL.59.5.73512221166Search in Google Scholar

2. Kaiser-Kupfer MI, de Monasterio FM, Valle D, Walser M, Brusilow S. Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet. Science. 1980 Dec 5;210(4474):1128-31. PubMed PMID: 7444439.Search in Google Scholar

3. Valle D, Walser M, Brusilow SW, Kaiser-Kupfer M. Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. J Clin Invest. 1980 Feb;65(2):371-8. PubMed PMID: 7356686; PubMed Central PMCID: PMC371375.10.1172/JCI1096803713757356686Search in Google Scholar

4. Valle D, Simell O, The hyperornithinemias. In: CR Scriver, AL Beaudet, WS Sly, D Valle, editors. The Metabolic and Molecular Bases of Inherited Disease. Vol. II. (8th ed.) New York: McGraw-Hill (pub.) 2001. Pp. 1857-95.Search in Google Scholar

5. Mitchell. GA, Brody LC, Looney J, Steel G, Suchanek M, Dowling C, et al. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J. Clin. Invest. 1988 Feb; 81(2): 630-3. PubMed PMID: 3339136; PubMed Central PMCID: PMC329615.10.1172/JCI1133653296153339136Open DOISearch in Google Scholar

6. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratoty Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep. 2009 Jun 12; 58 (RR-6):1-29. PubMed PMID: 19521335.Search in Google Scholar

7. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. 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 2012/09/0110.1016/j.ophtha.2012.05.04722944025Search in Google Scholar

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