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Genetic testing for Bietti crystalline dystrophy Cover

Genetic testing for Bietti crystalline dystrophy

Open Access
|Oct 2017

References

  1. 1. Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti Crystalline Dystrophy. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA) 1993.
  2. 2. Kojima H, Otani A, Ogino K, Nakagawa S, Makiyama Y, Kurimoto M, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol. 2012 Mar; 96(3):390-3. doi: 10.1136/bjo.2010.199356. Epub 2011 Jul 29. PubMed PMID: 21803923.
  3. 3. Pennesi ME, Weleber RG. High resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina. 2010 Mar; 30(3):531-2. doi: 10.1097/IAE.0b013e- 3181c96a15. PubMed PMID: 20139800.
  4. 4. Padhi TR, Kesarwani S, Jalali S. Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. Doc Ophthalmol. 2011 Jun; 122(3):199-206. doi: 10.1007/s10633-011-9274-1. Epub 2011 May 25. PubMed PMID: 21611771
  5. 5. Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL. Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina. 2004 Jun; 24(3):416-26. PubMed PMID: 15187665.10.1097/00006982-200406000-0001315187665
  6. 6. Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, et al. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti’s retinal dystrophy. Mol Genet Genomic Med. 2015 Jan; 3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. PubMed PMID: 25629076; PubMed Central PMCID: PMC4299712.
  7. 7. 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.
  8. 8. 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 2012/09/01.
Language: English
Page range: 20 - 22
Published on: Oct 27, 2017
Published by: European Biotechnology Thematic Network Association
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2017 Andi Abeshi, Alice Bruson, Tommaso Beccari, Munis Dundar, Lucia Ziccardi, Matteo Bertelli, published by European Biotechnology Thematic Network Association
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.