To date, close to 120 BCD related papers have been published. In 1937, Dr. G.B. Bietti first reported and characterized BCD. 1 In 2004, a global study revealed that BCD is caused by CYP4V2 mutations. 2 Numerous studies around the world have contributed to building the knowledge base for this rare disease, particularly in BCD clinical characterization, diagnosis, or genotype. In addition, researchers also studied:
Different imaging techniques:
– Infrared imaging technique to enhance observation of retinal crystals in BCD. 3 4
– Hyperreflective appearance on near-infrared reflectance (NIR) imaging has been reported to yield 100% sensitivity and 100% specificity in diagnosing BCD among patients with chorioretinal dystrophy accompanied by crystalline-like deposits 5
– Multimodal adaptive optics Imaging to study the cellular status and progression of the outer retinal complex in BCD 6
Abnormal lipid metabolism in BCD, for example:
– BCD is characterized by a lower than normal conversion of fatty acid (FA) precursors into n-3 PUFA, which raises the possibility that abnormal lipid metabolism associated with BCD is the result of deficient lipid binding, elongation, or desaturation. 7
– Abnormal serum fatty acid composition 8:
– CYP4V2 is an enzyme metabolically active towards n-3 polyunsaturated fatty acid (PUFAs), particularly DHA. 9
– Lipidomic analyses revealed the accumulation of glucosylceramide and free cholesterol in BCD-affected cells. 10
Disclaimer: The information herein are for general information purpose only and may be inaccurate, incomplete and outdated. Nothing herein shall be construed as medical advice or diagnosis. Consult your doctor for medical advice and diagnosis.
1 Bietti G. (1937). Ueber faxmiliares Vorkommen von “Retinitis punctata albescens” (verbunden mit “dystrophis marginalis cristallinea cornea”), glitzern, des glaskorpers und anderen degenerativen augenveranderungen. Klin Monbl Augenheilkd. 99:737–756.
2 Li A, Jiao X, Munier FL, et al. (2004). Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet;74:817–826.
3 Yanagi Y, Tamaki Y, Fukushima H. (2003). Fine retinal crystalline deposits observed by confocal scanning laser ophthalmoscopic examination using infrared light. British Journal of Ophthalmology;87:509-510.
4 Brar VS, Benson WH. (2015). Infrared imaging enhances retinal crystals in Bietti’s crystalline dystrophy. Clin Ophthalmol;9:645-8.
5 Oishi A, Oishi M, Miyata M, et al. (2018). Multimodal imaging for differential diagnosis of Bietti crystalline dystrophy. Ophthalmol Retina;2(10):1071–1077
6 Johnny Tam, Laryssa Huryn, Zhuolin Liu, Jianfei Liu, HaeWon Jung, Nancy Aguilera, Daniel Hammer, Wadih M. Zein, Tao Li, Multimodal daptive Optics Imaging of the Cellular Status andProgession of the Outer Retinal Complex in Bietti Crystalline Dystrophy, ARVO (2019).
7 Lee J, Jiao X, Hejtmancik JF, et al. (2001). The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci;42:1707–1714
8 Lai TY, Chu KO, Chan KP, et al. (2010). Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. Invest Ophthalmol Vis Sci;51:1092–1097.
9 Nakano M, Kelly EJ, Wiek C, Hanenberg H, Rettie AE. (2012). CYP4V2 in Bietti’s crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant. Mol Pharmacol. 82:679–686. 10 Hata M, Ikeda HO, Iwai S, et al. (2018). Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes. Proc Natl Acad Sci USA;115:3936
10 Hata M, Ikeda HO, Iwai S, et al. (2018). Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes. Proc Natl Acad Sci USA;115:3936