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
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- 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.
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