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

Abstract

This study identified the most sensitive functional methods for assessing BCD patients, and the significance of PLR in the advanced stages. In addition, the defined-substages can help us understand the disease more clearly.

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

“…Retina-wide rod disease demonstrated with full-field ERGs in patients with more advanced disease, elevated dark-adapted thresholds on previous dark-adaptometry measurements, and nyctalopia later in the disease, likely result from the extension of the localized dysfunction to larger expanses of retina. 25, 28, 31, 45-48 Localized cone dysfunction, on the other hand, was less severely affected but was definitely present and likely progressed into absolute scotomas as reported with light-adapted perimetry and multifocal electroretinography. 8, 25, 27, 28, 30, 31, 39, 47, 49-52 It is possible, for example, that the emergence of CNV in BCD may be a consequence of a decline in the production of anti-angiogenic factors by an abnormal RPE subserving high densities of photoreceptors in the foveal and parafoveal retina.…”

“…25, 28, 31, 45-48 Localized cone dysfunction, on the other hand, was less severely affected but was definitely present and likely progressed into absolute scotomas as reported with light-adapted perimetry and multifocal electroretinography. 8, 25, 27, 28, 30, 31, 39, 47, 49-52 It is possible, for example, that the emergence of CNV in BCD may be a consequence of a decline in the production of anti-angiogenic factors by an abnormal RPE subserving high densities of photoreceptors in the foveal and parafoveal retina. 53 The presence of crystals within the RPE may not directly predispose to CNV, since neovascularization would be expected to be much more prevalent, and perhaps, not limited to the fovea and parafovea.…”

Genetics of Bietti Crystalline Dystrophy

“…49,55 Interestingly, clinical symptoms of BCD remain only in the eyes. The link between altered 32 Yin et al, 36 Meng et al, 59 Manzouri et al, 64 Shan et al 60 15 3 c.332T>C p.I111T Missense Li et al, 55 Astuti et al, 63 Rossi et al, 61 García-García et al, 65 Haddad et al, 66 Rossi et al 67 10 Lin et al, 11 Li et al, 17 Gocho et al, 27 Halford et al, 32 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Astuti et al, 63 Nakamura et al, 68 Lee et al, 69 Chung et al, 70 Gekka et al, 71 Jin et al, 72 Liu et al, 73 Shan et al, 60 Tian et al, 62 Wada et al, 74 10 Li et al, 17 Li et al, 55 Xiao et al, 57 Meng et al, 59 36 Meng et al, 59 Mamatha et al 77 43 9 c.1091-2A>G Exon9del Splice site Li et al, 17 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Shan et a...…”

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.…”