Case Report

Bietti’ Crystalline Retinal Dystrophy: A Case Report

Volume: 7 Number: 1 March 1, 2016
  • Muhammed Şahin
  • Adnan Yıldırım
  • Fatih Mehmet Türkcü
  • Harun Yüksel
  • Alparslan Şahin
EN

Bietti’ Crystalline Retinal Dystrophy: A Case Report

Abstract

Bietti’ crystalline retinal dystrophy (BCD) is a rare, autosomal, recessively inherited disorder, characterized by the deposition of yellow crystals in the corneal limbus and retina. In this paper we aimed to present a pediatric case with BCD, with clinical, electrophysiological and spectral domain optical coherence tomography (SD-OCT) findings and discuss BCD with the light of the literature. J Clin Exp Invest 2016; 7 (1): 94-97

Keywords

References

  1. 1. Wilson DJ, Weleber RG, Klein ML, et al. Bietti’s crystalline dystrophy: A clinicopathologic correlative study. Arch. Ophthalmol 1989;107:213-221.
  2. 2. Mataftsi A, Zografos L, Millá E, et al. Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina Phila. Pa 2004;24:416-426.
  3. 3. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J. Med. Genet 1987;24:584-588.
  4. 4. Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. Am. J. Ophthalmol 1994;118:569-582.
  5. 5. Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti Crystalline Dystrophy. 2012 [cited 2015 Oct 13]; Available from: http://www.ncbi.nlm.nih.gov/books/NBK91457/
  6. 6. Li A, Jiao X, Munier FL, et al. Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2. Am. J. Hum. Genet 2004;74:817-826.
  7. 7. Gocho K, Kameya S, Akeo K, et al. High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation. J. Ophthalmol 2014;2014:283603.
  8. 8. Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina Phila. Pa 2010;30:531-532.

Details

Primary Language

Turkish

Subjects

Health Care Administration

Journal Section

Case Report

Authors

Muhammed Şahin This is me

Adnan Yıldırım This is me

Fatih Mehmet Türkcü This is me

Harun Yüksel This is me

Publication Date

March 1, 2016

Submission Date

January 1, 2016

Acceptance Date

February 17, 2016

Published in Issue

Year 2016 Volume: 7 Number: 1

APA
Şahin, M., Yıldırım, A., Türkcü, F. M., Yüksel, H., & Şahin, A. (2016). Bietti’ Crystalline Retinal Dystrophy: A Case Report. Journal of Clinical and Experimental Investigations, 7(1), 94-97. https://doi.org/10.5799/jcei.328695
AMA
1.Şahin M, Yıldırım A, Türkcü FM, Yüksel H, Şahin A. Bietti’ Crystalline Retinal Dystrophy: A Case Report. J Clin Exp Invest. 2016;7(1):94-97. doi:10.5799/jcei.328695
Chicago
Şahin, Muhammed, Adnan Yıldırım, Fatih Mehmet Türkcü, Harun Yüksel, and Alparslan Şahin. 2016. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations 7 (1): 94-97. https://doi.org/10.5799/jcei.328695.
EndNote
Şahin M, Yıldırım A, Türkcü FM, Yüksel H, Şahin A (March 1, 2016) Bietti’ Crystalline Retinal Dystrophy: A Case Report. Journal of Clinical and Experimental Investigations 7 1 94–97.
IEEE
[1]M. Şahin, A. Yıldırım, F. M. Türkcü, H. Yüksel, and A. Şahin, “Bietti’ Crystalline Retinal Dystrophy: A Case Report”, J Clin Exp Invest, vol. 7, no. 1, pp. 94–97, Mar. 2016, doi: 10.5799/jcei.328695.
ISNAD
Şahin, Muhammed - Yıldırım, Adnan - Türkcü, Fatih Mehmet - Yüksel, Harun - Şahin, Alparslan. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations 7/1 (March 1, 2016): 94-97. https://doi.org/10.5799/jcei.328695.
JAMA
1.Şahin M, Yıldırım A, Türkcü FM, Yüksel H, Şahin A. Bietti’ Crystalline Retinal Dystrophy: A Case Report. J Clin Exp Invest. 2016;7:94–97.
MLA
Şahin, Muhammed, et al. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations, vol. 7, no. 1, Mar. 2016, pp. 94-97, doi:10.5799/jcei.328695.
Vancouver
1.Muhammed Şahin, Adnan Yıldırım, Fatih Mehmet Türkcü, Harun Yüksel, Alparslan Şahin. Bietti’ Crystalline Retinal Dystrophy: A Case Report. J Clin Exp Invest. 2016 Mar. 1;7(1):94-7. doi:10.5799/jcei.328695