Olgu Sunumu

Bietti’ Crystalline Retinal Dystrophy: A Case Report

Cilt: 7 Sayı: 1 1 Mart 2016
  • Muhammed Şahin
  • Adnan Yıldırım
  • Fatih Mehmet Türkcü
  • Harun Yüksel
  • Alparslan Şahin
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EN

Bietti’ Crystalline Retinal Dystrophy: A Case Report

Öz

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

Anahtar Kelimeler

Kaynakça

  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.

Ayrıntılar

Birincil Dil

Türkçe

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Muhammed Şahin Bu kişi benim

Adnan Yıldırım Bu kişi benim

Fatih Mehmet Türkcü Bu kişi benim

Harun Yüksel Bu kişi benim

Yayımlanma Tarihi

1 Mart 2016

Gönderilme Tarihi

1 Ocak 2016

Kabul Tarihi

17 Şubat 2016

Yayımlandığı Sayı

Yıl 2016 Cilt: 7 Sayı: 1

Kaynak Göster

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, ve 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 (01 Mart 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, ve A. Şahin, “Bietti’ Crystalline Retinal Dystrophy: A Case Report”, J Clin Exp Invest, c. 7, sy 1, ss. 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 (01 Mart 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, vd. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations, c. 7, sy 1, Mart 2016, ss. 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. 01 Mart 2016;7(1):94-7. doi:10.5799/jcei.328695