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Bietti’ Crystalline Retinal Dystrophy: A Case Report

Yıl 2016, , 94 - 97, 01.03.2016
https://doi.org/10.5799/jcei.328695

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

Kaynakça

  • 1. Wilson DJ, Weleber RG, Klein ML, et al. Bietti’s crystalline dystrophy: A clinicopathologic correlative study. Arch. Ophthalmol 1989;107:213-221.
  • 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. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J. Med. Genet 1987;24:584-588.
  • 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. 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. 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. 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. Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina Phila. Pa 2010;30:531-532.
  • 9. Kojima H, Otani A, Ogino K, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br. J. Ophthalmol 2012;96:390-393.
  • 10. Querques G, Quijano C, Bouzitou-Mfoumou R, et al. In-Vivo Visualization of Retinal Crystals in Bietti’s Crystalline Dystrophy by Spectral Domain Optical Coherence Tomography. Ophthalmic Surg. Lasers Imaging Off. J. Int. Soc. Imaging Eye 2010;1-3.
  • 11. Zerbib J, Ores R, Querques G, et al. Choroidal findings in Bietti’s crystalline dystrophy. Retin Cases Brief Rep 2014;8:130-131.
  • 12. Halford S, Liew G, Mackay DS, et al. Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy. Ophthalmology 2014;121:1174-1184.
  • 13. Lee KYC, Koh AHC, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis. Sci 2005;46:3812-3816.
  • 14. Rossi S, Testa F, Li A, et al. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet 2011;32:118-121.
Yıl 2016, , 94 - 97, 01.03.2016
https://doi.org/10.5799/jcei.328695

Öz

Kaynakça

  • 1. Wilson DJ, Weleber RG, Klein ML, et al. Bietti’s crystalline dystrophy: A clinicopathologic correlative study. Arch. Ophthalmol 1989;107:213-221.
  • 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. Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J. Med. Genet 1987;24:584-588.
  • 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. 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. 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. 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. Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina Phila. Pa 2010;30:531-532.
  • 9. Kojima H, Otani A, Ogino K, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br. J. Ophthalmol 2012;96:390-393.
  • 10. Querques G, Quijano C, Bouzitou-Mfoumou R, et al. In-Vivo Visualization of Retinal Crystals in Bietti’s Crystalline Dystrophy by Spectral Domain Optical Coherence Tomography. Ophthalmic Surg. Lasers Imaging Off. J. Int. Soc. Imaging Eye 2010;1-3.
  • 11. Zerbib J, Ores R, Querques G, et al. Choroidal findings in Bietti’s crystalline dystrophy. Retin Cases Brief Rep 2014;8:130-131.
  • 12. Halford S, Liew G, Mackay DS, et al. Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy. Ophthalmology 2014;121:1174-1184.
  • 13. Lee KYC, Koh AHC, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis. Sci 2005;46:3812-3816.
  • 14. Rossi S, Testa F, Li A, et al. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet 2011;32:118-121.
Toplam 14 adet kaynakça vardır.

Ayrıntılar

Konular Sağlık Kurumları Yönetimi
Bölüm Kısa Rapor
Yazarlar

Muhammed Şahin Bu kişi benim

Adnan Yıldırım Bu kişi benim

Fatih Mehmet Türkcü Bu kişi benim

Harun Yüksel Bu kişi benim

Alparslan Şahin

Yayımlanma Tarihi 1 Mart 2016
Yayımlandığı Sayı Yıl 2016

Kaynak Göster

APA Şahin, M., Yıldırım, A., Türkcü, F. M., Yüksel, H., vd. (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 Şahin M, Yıldırım A, Türkcü FM, Yüksel H, Şahin A. Bietti’ Crystalline Retinal Dystrophy: A Case Report. J Clin Exp Invest. Mart 2016;7(1):94-97. doi:10.5799/jcei.328695
Chicago Şahin, Muhammed, Adnan Yıldırım, Fatih Mehmet Türkcü, Harun Yüksel, ve Alparslan Şahin. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations 7, sy. 1 (Mart 2016): 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 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, 2016, doi: 10.5799/jcei.328695.
ISNAD Şahin, Muhammed vd. “Bietti’ Crystalline Retinal Dystrophy: A Case Report”. Journal of Clinical and Experimental Investigations 7/1 (Mart 2016), 94-97. https://doi.org/10.5799/jcei.328695.
JAMA 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, 2016, ss. 94-97, doi:10.5799/jcei.328695.
Vancouver Şahin M, Yıldırım A, Türkcü FM, Yüksel H, Şahin A. Bietti’ Crystalline Retinal Dystrophy: A Case Report. J Clin Exp Invest. 2016;7(1):94-7.