Dataset Information

Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.

ABSTRACT:

Background

To analyze multiple imaging modalities in patients with Bietti crystalline dystrophy (BCD) and to investigate which factors from these modalities are associated with best corrected visual acuity (BCVA).

Methods

In this retrospective study, 40 eyes from 22 patients with BCD were included and were separated into group 1 (BCVA ?20/200) and group 2 (BCVA >?20/200). Data including BCVA and characteristic findings from near-infrared reflectance (NIR) imaging, fundus autofluorescence (FAF), and spectral domain-optic coherence tomography (SD-OCT) were analyzed and compared. The outcome measures of multimodal imaging were evaluated for correlation with BCVA.

Results

NIR is a good diagnostic tool for detecting either crystalline or sclerotic vessels in BCD. Patients in group 1 tended to have a thinner choroid (P?=?0.047) with ellipsoid zone (EZ) disruption (P?=?0.011). Calculation of the area under the curve indicated that EZ disruption detected on SD-OCT could be a good predictor of legal blindness in BCD.

Conclusion

For the diagnosis of BCD, NIR could be a good diagnostic tool. Of the studied imaging modalities, we found that EZ disruption at the fovea were strongly associated with legal blindness, which could be easily assessed by SD-OCT.

SUBMITTER: Huang CY

PROVIDER: S-EPMC7860191 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.

Huang Chu-Yen CY Kang Eugene Yu-Chuan EY Yeh Lung-Kun LK Wu An-Lun AL Liu Pei-Kang PK Huang I-Wen IW Ryu Joseph J Liu Laura L Wu Wei-Chi WC Lai Chi-Chun CC Chen Kuan-Jen KJ Wang Nan-Kai NK

BMC ophthalmology 20210204 1

<h4>Background</h4>To analyze multiple imaging modalities in patients with Bietti crystalline dystrophy (BCD) and to investigate which factors from these modalities are associated with best corrected visual acuity (BCVA).<h4>Methods</h4>In this retrospective study, 40 eyes from 22 patients with BCD were included and were separated into group 1 (BCVA ≤20/200) and group 2 (BCVA > 20/200). Data including BCVA and characteristic findings from near-infrared reflectance (NIR) imaging, fundus autofluor ...[more]

PMID: 33541298

Similar Datasets

Project description:BackgroundBietti crystalline dystrophy (BCD) is a distinct entity of retinitis pigmentosa with a wide range of genotypic and phenotypic variabilities. The goal of the present study was to investigate the morphological, functional and genetic features of BCD.MethodsA full series of multimodal imaging was performed in four Chinese patients with BCD, including fundus photography, fundus autofluorescence, fundus fluorescein angiography (FFA), indocyanine green (ICG) angiography, optical coherence tomography (OCT) and microperimetry. Electrophysiological tests including full-field electroretinography (ERG) and multifocal ERG were employed. CYP4V2 gene sequencing was performed.ResultsIntraretinal crystalline deposits were observed in fundus photographs in all patients. The crystals were better appreciated in infrared images. Autofluorescence imaging demonstrated multifocal patchy hypofluorescence, suggesting massive RPE atrophy. FFA and ICG angiography further confirmed atrophy of the RPE and the underlying choroidal vessels. OCT revealed disruption of the photoreceptors, RPE and the choroid. Outer retinal tubulations (ORTs) confining to the outer nuclear layer were detected in three out of four patients. Full-field ERG showed markedly diminished responses. Multifocal ERG displayed reduced central and peripheral responses in a patient with normal vision. Gene sequencing identified two deletion mutations in CYP4V2, c.802_807del and c.810delT. BCD complicated by choroidal neovascularization (CNV) was diagnosed in one patient, and intravitreal anti-vascular endothelial growth factor (VEGF) injection was given with favorable response.ConclusionsMultimodal imaging features and electrophysiological findings of BCD patients were comprehensively discussed. A novel deletion mutation, c.802_807del, in the CYP4V2 gene was reported. ORTs are important changes in the outer retina of BCD patients, further investigation of this structure may provide insights into pathology of BCD. Intravitreal anti-VEGF therapy was effective for treatment of BCD complicated by CNV.

Project description:PurposeBietti crystalline dystrophy (BCD) is an inherited retinal degeneration disease caused by mutations in the CYP4V2 gene. Currently, there is no clinical therapy approach available for BCD patients. Previous research has suggested that polyunsaturated fatty acids (PUFAs) may play a significant role in the development of BCD, implicating the involvement of ferroptosis in disease pathogenesis. In this work, we aimed to investigate the interplay between ferroptosis and BCD and to detect potential therapeutic strategies for the disease.MethodsGenetic-edited RPE cell line was first established in this study by CRISPR-Cas9 technology. Cyp4v3 (the homologous gene of human CYP4V2) knock out (KO) mice have also been used. Lipid profiling and transcriptome analysis of retinal pigment epithelium (RPE) cells from Cyp4v3 KO mice have been conducted. Ferroptosis phenotypes have been first investigated in BCD models in vitro and in vivo, including lipid peroxidation, mitochondrial changes, elevated levels of reactive oxygen species (ROS), and altered gene expression. Additionally, an iron chelator, deferiprone (DFP), has been tested in vitro and in vivo to determine its efficacy in suppressing ferroptosis and restoring the BCD phenotype.ResultsCyp4v3 KO mice exhibited progressive retinal degeneration and lipid accumulation, similar to the BCD phenotype, which was exacerbated by a high-fat diet (HFD). Increased levels of PUFAs, such as EPA (C22:5) and AA (C20:4), were observed in the RPE of Cyp4v3 KO mice. Transcriptome analysis of RPE in Cyp4v3 KO mice revealed changes in genes involved in iron homeostasis, particularly an upregulation of NCOA4, which was confirmed by immunofluorescence. Ferroptosis-related characteristics, including mitochondrial defects, lipid peroxidation, ROS accumulation, and upregulation of related genes, were detected in the RPE both in vitro and in vivo. Abnormal accumulation of ferrous iron was also detected. DFP, an iron chelator administration suppressed ferroptosis phenotype in CYP4V2 mutated RPE. Oral administration of DFP also restored the retinal function and morphology in Cyp4v3 KO mice.ConclusionThis study represented the first evidence of the substantial role of ferroptosis in the development of BCD. PUFAs resulting from CYP4V2 mutation may serve as substrates for ferroptosis, potentially working in conjunction with NCOA4-regulated iron accumulation, ultimately leading to RPE degeneration. DFP administration, which chelates iron, has demonstrated its ability to reverse BCD phenotype both in vitro and in vivo, suggesting a promising therapeutic approach in the future.

Dataset Information

Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.

Background

Methods

Results

Conclusion

Publications

Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets