Bietti’ Crystalline Retinal Dystrophy: A Case Report

Amaç & Hipotez: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.

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Temel Bulgular & Veri: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.

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Sonuç & Katkı:J Clin Exp Invest 2016; 7 (1): 94-97

🔬Tür:Olgu Sunumu

📍Kapsam:2016 Verileri

⚙️Değişkenler:Bietti’ crystalline dystrophy · cornea · crystalline deposits

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

Anahtar kelimeler

Bietti’ crystalline dystrophy cornea crystalline deposits retina

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Bu Makaleye Atıf Yap

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, Cilt: 7 Sayı: 1, 94–97. https://doi.org/10.5799/jcei.328695

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Kaynakça (14)

Wilson DJ, Weleber RG, Klein ML, et al. Bietti’s crystalline dystrophy: A clinicopathologic correlative study. Arch. Ophthalmol 1989;107:213-221.
Mataftsi A, Zografos L, Millá E, et al. Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina Phila. Pa 2004;24:416-426.
Hu DN. Prevalence and mode of inheritance of major genetic eye diseases in China. J. Med. Genet 1987;24:584-588.
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.
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/
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.
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.
Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina Phila. Pa 2010;30:531-532.
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.
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.
Zerbib J, Ores R, Querques G, et al. Choroidal findings in Bietti’s crystalline dystrophy. Retin Cases Brief Rep 2014;8:130-131.
Halford S, Liew G, Mackay DS, et al. Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy. Ophthalmology 2014;121:1174-1184.
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.
Rossi S, Testa F, Li A, et al. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet 2011;32:118-121.