Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti's Crystalline Corneoretinal Dystrophy

Abstract

Our results expand the allelic heterogeneity of Bietti's crystalline corneoretinal dystrophy. This is the first patient of Latin-American origin in which a molecular analysis of the disease has been performed. Our results suggest that the use of corneal rotating Scheimpflug imaging can evidence corneal deposits that are not apparent by other methods.

The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages

“…This test provided a sensitive evaluation of visual function in BCD patients. Some reports have described the VF of BCD as a simple "centripetal constriction" [25,26]. However, we confirmed the VF's feature when using the 85º VF testg but this was not the case when using the 30º VF test.…”

Evolution of Cellular Inclusions in Bietti’s Crystalline Dystrophy

“…These deposits are very fine and may be easily overlooked unless specifically sought 5. Zenteno et al however, reported that corneal deposits were not seen by biomicroscopy, corneal optical coherence tomography (OCT), or specular microscopy but were seen only by means of the corneal rotating Scheimpflug imaging 39. The crystals often present in the superior or inferior limbus first, and then spread to the entire corneal limbus.…”

“…To date over 23 CYP4V2 mutations have been reported in BCD cases, the most common being a (IVS6-8delTCATACAGGTCATCGCG/insGC) in Japanese, Chinese and European patients but less commonly in Singapore patients with BCD 25–27,29–33,34,36,37,39. CYP4V2 is composed of 11 exons that that encode a widely expressed 525 amino acid CYP450 family member, which is presumably involved in fatty acid metabolism 27.…”

Generation and Characterization of a Murine Model of Bietti Crystalline Dystrophy

“…15 To date, over 50 mutations have been identified in BCD patients, with at least one mutation in each of the gene's 11 exons. [9][10][11][12][13][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35] Genotype analysis has shown that the most common pathologic CYP4V2 mutation is c.802-8_810del17insGC, which results in deletion of exon 7 in the mature transcript, though other mutations in each exon are also Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc. www.iovs.org j ISSN: 1552-5783 linked to the disease. 16,17,28 Additionally, a relatively common polymorphism in CYP4V2 (rs13146272; Q259K), with a minor allele frequency of 45%, has been associated with deep vein thrombosis.…”