Case Report
Year 2016,
Volume: 7 Issue: 1, 94 - 97, 01.03.2016
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
References
- 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.
Year 2016,
Volume: 7 Issue: 1, 94 - 97, 01.03.2016
Abstract
References
- 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.
There are 14 citations in total.
Details
| Subjects | Health Care Administration |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 1, 2016 |
| DOI | https://doi.org/10.5799/jcei.328695 |
| IZ | https://izlik.org/JA82BB95TN |
| Published in Issue | Year 2016 Volume: 7 Issue: 1 |