scholarly journals Multicolour Imaging in Bietti’s Crystalline Dystrophy

2019 ◽  
Vol 30 (2) ◽  
Author(s):  
Mridhula Sekar
Keyword(s):  
Bietti's Crystalline Dystrophy

scholarly journals Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Ta-Ching Chen ◽  
Ding-Siang Huang ◽  
Chao-Wen Lin ◽  
Chang-Hao Yang ◽  
Chung-May Yang ◽  
...  
Keyword(s):  
Demographic Data ◽  
Genomic Medicine ◽  
Research Database ◽  
Genetic Characteristics ◽  
Common Cause ◽  
Gene Therapies ◽  
Retinal Degenerations ◽  
Near Future ◽  
Inherited Retinal Degeneration ◽  
Bietti's Crystalline Dystrophy

AbstractInherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.

Bietti's Crystalline Dystrophy

2013 ◽  
pp. 457-457
Author(s):  
Tarun Sharma ◽  
Muna Bhende ◽  
Pukhraj Rishi ◽  
Ekta Rishi
Keyword(s):  
Bietti's Crystalline Dystrophy

scholarly journals PSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti’s Crystalline Dystrophy

2020 ◽  
Vol 28 (12) ◽  
pp. 2642-2661 ◽  
Author(s):  
Zhao Zhang ◽  
Bin Yan ◽  
Fei Gao ◽  
Qing Li ◽  
Xiaohong Meng ◽  
...  
Keyword(s):  
Mitochondrial Stress ◽  
Central Node ◽  
Bietti's Crystalline Dystrophy

scholarly journals Reduction of lipid accumulation rescues Bietti’s crystalline dystrophy phenotypes

2018 ◽  
Vol 115 (15) ◽  
pp. 3936-3941 ◽  
Author(s):  
Masayuki Hata ◽  
Hanako O. Ikeda ◽  
Sachiko Iwai ◽  
Yuto Iida ◽  
Norimoto Gotoh ◽  
...  
Keyword(s):  
Free Cholesterol ◽  
Cell Damage ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Patient Specific ◽  
Rpe Cells ◽  
Underlying Mechanisms ◽  
Induced Pluripotent ◽  
Bietti's Crystalline Dystrophy

Bietti’s crystalline dystrophy (BCD) is an intractable and progressive chorioretinal degenerative disease caused by mutations in the CYP4V2 gene, resulting in blindness in most patients. Although we and others have shown that retinal pigment epithelium (RPE) cells are primarily impaired in patients with BCD, the underlying mechanisms of RPE cell damage are still unclear because we lack access to appropriate disease models and to lesion-affected cells from patients with BCD. Here, we generated human RPE cells from induced pluripotent stem cells (iPSCs) derived from patients with BCD carrying a CYP4V2 mutation and successfully established an in vitro model of BCD, i.e., BCD patient-specific iPSC-RPE cells. In this model, RPE cells showed degenerative changes of vacuolated cytoplasm similar to those in postmortem specimens from patients with BCD. BCD iPSC-RPE cells exhibited lysosomal dysfunction and impairment of autophagy flux, followed by cell death. Lipidomic analyses revealed the accumulation of glucosylceramide and free cholesterol in BCD-affected cells. Notably, we found that reducing free cholesterol by cyclodextrins or δ-tocopherol in RPE cells rescued BCD phenotypes, whereas glucosylceramide reduction did not affect the BCD phenotype. Our data provide evidence that reducing intracellular free cholesterol may have therapeutic efficacy in patients with BCD.

scholarly journals Adaptive optics imaging of the outer retinal tubules in Bietti’s crystalline dystrophy

Eye ◽  
2016 ◽  
Vol 30 (5) ◽  
pp. 705-712 ◽  
Author(s):  
R Battu ◽  
M C Akkali ◽  
D Bhanushali ◽  
P Srinivasan ◽  
R Shetty ◽  
...  
Keyword(s):  
Adaptive Optics ◽  
Adaptive Optics Imaging ◽  
Bietti's Crystalline Dystrophy

scholarly journals Autofluorescence of choroidal vessels in Bietti’s crystalline dystrophy

2020 ◽  
Vol 5 (1) ◽  
pp. e000592
Author(s):  
Hossein Ameri ◽  
Erin Su ◽  
Tyler J Dowd-Schoeman
Keyword(s):  
Genetic Information ◽  
Fundus Autofluorescence ◽  
Transitional Zone ◽  
Posterior Pole ◽  
National Institutes Of Health ◽  
Fundus Photography ◽  
Characteristic Finding ◽  
Retinal Dystrophies ◽  
Bietti's Crystalline Dystrophy ◽  
Choroidal Vessels

ObjectiveTo describe the pattern of fundus autofluorescence (FAF) in Bietti’s crystalline dystrophy (BCD).Methods and analysisFrom the National Institutes of Health EyeGene database of 2769 patients with known pathogenic mutations, 5 patients with BCD-causing CYP4V2 mutations who had FAF images were selected. Demographic and genetic information and imaging files were obtained. From the FAF imaging files, unique autofluorescence (AF) patterns and correlation with retinal structures were assessed by three investigators for clinical significance.ResultsFive patients (four males, one female; mean age 56 years, range 42–76 years) were included, all with different CYP4V2 mutations. All patients displayed varying degrees of hypo-AF in the posterior pole. In four out of five patients, there was a relative hyper-AF of choroidal vessels within the hypo-AF area; this feature was limited to sclerotic vessels only. A transitional zone of speckled AF was visible around the hypo-AF area. This zone corresponded to the area containing retinal crystals on colour fundus photography; however, retinal crystals did not demonstrate hyper or hypo-AF.ConclusionsThis study presents a previously unreported characteristic finding in patients with BCD with CYP4V2 mutations. AF of choroidal vessels may aid in differentiating BCD from other retinal dystrophies.

Spectral domain optical coherence tomography andin vivoconfocal microscopy imaging of a case of Bietti's crystalline dystrophy

2012 ◽  
Vol 96 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Lisa Toto ◽  
Paolo Carpineto ◽  
Maurizio Battaglia Parodi ◽  
Luca Di Antonio ◽  
Alessandra Mastropasqua ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Spectral Domain ◽  
Optical Coherence ◽  
Microscopy Imaging ◽  
Bietti's Crystalline Dystrophy
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