614 results match your criteria: "Dystrophy Crystalline"
Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.
Invest Ophthalmol Vis Sci
November 2024
Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Article Synopsis
A multimodal imaging approach to investigate retinal oxygen and vascular dynamics, and neural dysfunction in bietti crystalline dystrophy.
Microvasc Res
January 2025
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology&Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. Electronic address:
Background: This study aimed to explore retinal changes in Bietti crystalline dystrophy (BCD) patients, including retinal metabolism, blood flow, vascular remodeling, and pupillary light reflex (PLR) abnormalities.
Methods: This cross-sectional study included 120 eyes from BCD patients and 120 eyes from healthy controls, utilizing a multimodal imaging system (MEFIAS 3200, SYSEYE, Chongqing, China) to evaluate retinal oxygenation, blood flow, vascular structure, and PLR. Measurements included oxygen saturation, blood flow velocity, vessel diameters, and pulsatility metrics.
[Multimodal imaging of Bietti's crystalline dystrophy].
J Fr Ophtalmol
October 2024
Service d'ophtalmologie, centre hospitalier Hassan II, hôpital Omar-Drissi, Fès, Maroc; Faculté de médecine et de pharmacie et de médecine dentaire de Fès, université Sidi-Mohammed-Ben-Abdellah, Fès, Maroc.
Prevalence of Certain Corneal Conditions and their Demographic Risk Factors; Tehran Geriatric Eye Study.
Arch Iran Med
August 2024
Department of Medical Surgical Nursing, School of Nursing and Midwifery, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- The study investigated the prevalence of corneal abnormalities among elderly individuals in Tehran, revealing that nearly 50% have some form of such issues, primarily corneal degeneration.
- A total of six types of corneal abnormalities were assessed, with punctate epithelial defect being the second most common at 8.77%.
- The results suggest that older age significantly correlates with corneal abnormalities, and illiteracy was linked to a higher occurrence of posterior embryotoxon.
Quickly diagnosing Bietti crystalline dystrophy with deep learning.
iScience
September 2024
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Article Synopsis
- - Bietti crystalline dystrophy (BCD) is a rare inherited retinal disease that's tough to diagnose early, and this study focuses on improving that diagnosis using advanced technology. - Researchers used deep learning (DL) techniques with different models to classify ultra-wide-field (UWF) fundus photos, labeling them as BCD, retinitis pigmentosa, or normal, and further categorizing BCD into three clinical stages. - The study created a comprehensive BCD database for the Chinese population and demonstrated that the DL models could effectively diagnose and stage BCD using UWF fundus photography, showcasing their potential for quick and accurate diagnosis.
Cataract surgery in retinitis pigmentosa.
Med Hypothesis Discov Innov Ophthalmol
August 2024
Dokuz Eylul University, Department of Ophthalmology, Izmir, Turkey.
Article Synopsis
- - Retinitis pigmentosa (RP) is a genetic eye disorder that leads to progressive vision loss, with cataracts—especially posterior subcapsular cataracts—compounding this issue and affecting visual clarity.
- - A literature review analyzed 53 studies to assess the challenges and outcomes of cataract surgery in RP patients, highlighting significant visual improvement despite potential complications such as zonular weakness and lens subluxation.
- - Strategies like using capsular tension rings during surgery and ensuring thorough postoperative care are essential to reduce risks like cystoid macular edema and posterior capsular opacification.
Outer Retinal Tubulations in Bietti Crystalline Dystrophy.
Ophthalmol Retina
August 2024
Beijing Tongren Eye Center, Beijing key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Early Detection of Subclinical Corneal Abnormalities: Biophotonic Imaging Reveals Hyporeflective Bleb-Like Structures in Asymptomatic Eyes.
Am J Case Rep
August 2024
Department of Ophthalmology, Rostock University Medical Center, Rostock, Germany.
Article Synopsis
- A 57-year-old man with no symptoms underwent a detailed eye exam as part of a study and showed no apparent ocular issues but was found to have unusual bleb-like structures in his cornea using advanced imaging techniques.
- These findings from optical coherence tomography (OCT) and confocal laser scanning microscopy (CLSM) suggest possible early signs of epithelial basement membrane dystrophy, although they are not yet a confirmed diagnosis.
- The case highlights the value of non-invasive imaging methods in detecting early corneal disorders, which could enhance the management and outcomes of eye health.
Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.
JCI Insight
August 2024
Jonas Children's Vision Care, Department of Ophthalmology, Columbia University, New York, New York, USA.
Article Synopsis
- Patient-specific induced pluripotent stem cell-derived (iPSC-derived) cell lines offer tailored therapies, enhancing treatment precision for conditions like Bietti crystalline dystrophy (BCD), a rare blinding disease affecting around 67,000 people globally.
- The study utilized iPSC-derived retinal pigment epithelium (iRPE) cells from BCD patients to assess the effectiveness of adeno-associated virus (AAV)-mediated gene therapy, finding that this therapy can significantly reduce blue light-induced cell death in affected cells.
- Additionally, the researchers discovered variability in cellular phenotypes linked to different genetic mutations, highlighting the importance of personalized treatment approaches in advancing therapies for BCD and potentially other diseases.
DISCREPANCY BETWEEN FUNDUS AUTOFLUORESCENCE ABNORMALITY AND VISUAL FIELD LOSS IN BIETTI CRYSTALLINE DYSTROPHY.
Retina
August 2024
Department of Ophthalmology, Kobe City Eye Hospital, Kobe, Japan.
Article Synopsis
- The study investigates the effectiveness of retinal pigment epithelium replacement therapy for patients with Bietti crystalline dystrophy (BCD) by examining the relationship between fundus autofluorescence abnormalities and visual field defects.
- It includes data from 16 BCD patients and 16 patients with RHO-associated retinitis pigmentosa, analyzing their fundus autofluorescence and visual field test results.
- Findings reveal that in BCD patients, the area of FAF abnormalities does not correlate with visual field loss, highlighting the potential for therapy to help preserve remaining vision, unlike in RHO-associated cases where correlations were stronger.
Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle.
Neuropathology
December 2024
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Article Synopsis
- Dystrophinopathy, specifically Duchenne muscular dystrophy (DMD), is characterized by a lack of dystrophin in skeletal muscles, leading to muscle weakness, necrosis, inflammation, and fibrosis.
- A unique case of a 10-year-old with asymptomatic dystrophinopathy was studied to understand the absence of muscle weakness, revealing differences in gene expression, particularly low levels of cathepsin K (CTSK).
- The research suggests that higher CTSK expression in typical DMD patients contributes to muscle damage, while the lower levels in the asymptomatic patient may explain the lack of weakness, providing potential therapeutic insights for DMD.
Uncovering the role of ferroptosis in Bietti crystalline dystrophy and potential therapeutic strategies.
Cell Commun Signal
July 2024
Department of Ophthalmology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Purpose: Bietti 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.
View Article and Find Full Text PDFTargeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti's crystalline dystrophy.
Graefes Arch Clin Exp Ophthalmol
December 2024
Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Capital Medical University, No.1 Dongjiaominxiang, Dongcheng District, Beijing, 100730, China.
Article Synopsis
- The study investigates lipid metabolism abnormalities in Bietti's crystalline dystrophy (BCD) through a case-control analysis of genetically confirmed patients and controls, focusing on lipid profiles in the blood.
- Results indicated that BCD patients had higher levels of triglycerides and low-density lipoprotein cholesterol, along with significantly lower levels of important fatty acids like DHA, EPA, and ARA, compared to controls.
- The findings suggest that these lower levels of fatty acids and their metabolites could play a role in the disease's progression and may serve as potential biomarkers and targets for future therapies.
Crystalline Hepatopathy Associated With Bietti Crystalline Dystrophy: A Striking Manifestation of Disordered Fatty Acid Metabolism.
Am J Surg Pathol
September 2024
Department of Pathology, Stanford University School of Medicine, Stanford.
Bietti crystalline dystrophy (BCD) is a rare heritable retinal disease characterized by crystal deposition primarily in the retina. It is associated with atrophy of the retinal pigment epithelium (RPE) and is caused by variants in CYP4V2 , which encodes a cytochrome P450 hemethiolate protein superfamily member. CYP4V2 is involved in the selective hydrolysis of saturated medium chain fatty acids, and patients with BCD demonstrate abnormalities in fatty acid metabolism, including abnormal lipid profiles and the accumulation of the pathogenic crystals within the RPE, which leads to the visual pathologies characteristic of BCD.
View Article and Find Full Text PDFIn vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment.
Nat Commun
May 2024
Department of Ophthalmology, Third Hospital, Peking University, Beijing, China.
Article Synopsis
- * A study utilized CRISPR/Cas9 gene editing with rAAV2/8 vectors to target intron 6 of the CYP4V2 gene in various cell types and a mouse model, successfully integrating critical genetic sequences for improving cell functions.
- * The gene editing therapy showed positive outcomes, including restored cell viability and improved RPE and photoreceptor health in mouse models, indicating that this method has the potential for long-term treatment of BCD.
Crystalline keratopathy secondary to the use of ciprofloxacin after cataract surgery with confirmation by histopathological study: A case report and review of the literature.
Arch Soc Esp Oftalmol (Engl Ed)
June 2024
Asociación para Prevenir la Ceguera en México I. A. P., Mexico City, Mexico.
Objective: To report the case of a 75-year-old patient who presented crystalline keratopathy secondary to the use of topical ciprofloxacin with histopathological verification, after cataract surgery without complications.
Method: Case report with clinical and photographic follow-up, as well as slides with samples of epithelium and crystalline deposits.
Results: Corneal deposits resolved after drug suspension, topical lubricant change, and subsequent surgical debridement.
Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
Nat Commun
April 2024
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
The diagnosis of inherited retinal degeneration (IRD) is challenging owing to its phenotypic and genotypic complexity. Clinical information is important before a genetic diagnosis is made. Metabolomics studies the entire picture of bioproducts, which are determined using genetic codes and biological reactions.
View Article and Find Full Text PDFGene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Signal Transduct Target Ther
April 2024
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, 100730, Beijing, China.
Article Synopsis
- - Bietti crystalline corneoretinal dystrophy is a genetic retinal disease linked to CYP4V2 mutations, causing blindness, and currently has no treatment.
- - A clinical trial (NCT04722107) tested a gene therapy called rAAV2/8-hCYP4V2 in 12 participants, showing mostly mild side effects, and achieved improvements in vision for 77.8% of patients by day 180.
- - The trial results indicated a positive safety profile and significant visual acuity improvements, supporting further research and development of this gene therapy (ZVS101e).
Sustained Release Formulation of Hydroxypropyl-β-cyclodextrin Eye Drops Using Xanthan Gum.
Chem Pharm Bull (Tokyo)
April 2024
Graduate School of Pharmaceutical Sciences, Kumamoto University.
Article Synopsis
- Bietti's crystalline dystrophy (BCD) is a genetic eye condition caused by mutations in the CYP4V2 gene, leading to cholesterol buildup and crystal deposits in the retina.
- Hydroxypropyl-β-cyclodextrin (HP-β-CyD) can help manage BCD by reducing cell damage but has low retention in the eye, which this study aims to address.
- The research shows that using xanthan gum as a carrier for HP-β-CyD results in better sustained release and reduced toxicity compared to other agents, making it a promising option for eye drops in treating BCD.
Longitudinal Natural History Study of Visual Function in Bietti Crystalline Dystrophy: Implications for Early Intervention.
Invest Ophthalmol Vis Sci
April 2024
Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Purpose: To delineate the natural history of visual function parameters over time in individuals with Bietti crystalline dystrophy.
Methods: This was a single-center retrospective longitudinal cohort study. Participants (n = 29) with a clinical diagnosis of Bietti crystalline dystrophy who harbored two alleles of disease-causing variants of the cytochrome P450 family 4 subfamily V member 2 gene (CYP4V2) were enrolled.
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Prog Retin Eye Res
May 2024
Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address:
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone and cone-rod dystrophies (GUCA1A, PRPH2, ABCA4, KCNV2 and RPGR), (iii) predominant rod or rod-cone dystrophies (retinitis pigmentosa, enhanced S-Cone syndrome (NR2E3), Bietti crystalline corneoretinal dystrophy (CYP4V2)), (iv) Leber congenital amaurosis/early-onset severe retinal dystrophy (GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1 and NMNAT1), (v) cone dysfunction syndromes (achromatopsia (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6), X-linked cone dysfunction with myopia and dichromacy (Bornholm Eye disease; OPN1LW/OPN1MW array), oligocone trichromacy, and blue-cone monochromatism (OPN1LW/OPN1MW array)).
View Article and Find Full Text PDFInfectious crystalline keratopathy after penetrating keratoplasty.
Arch Soc Esp Oftalmol (Engl Ed)
February 2024
Hospital Prof. Doutor Fernando Fonseca, Amadora, Portugal.
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
NPJ Genom Med
January 2024
Institute of Medical Sciences, Tzu Chi University, Hualien, 970374, Taiwan.
Article Synopsis
- * We found that 68.5% of patients received genetic diagnoses, with retinitis pigmentosa being the most commonly suspected condition, and discovered several common genetic variants linked to these disorders.
- * Additionally, we identified 87 unique genetic variants not previously reported in relation to IRD, which helped refine the clinical diagnoses for some patients, demonstrating our customized gene panel's effectiveness across diverse IRD phenotypes.
En face OCT analysis of Bietti's crystalline dystrophy.
Am J Ophthalmol Case Rep
March 2024
Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles, Los Angeles, CA, USA.
Objective: To describe the multimodal imaging features, including en face optical coherence tomography (OCT), of Bietti's crystalline dystrophy (BCD).
Methods: Wide field fundus photography, autofluorescence (FAF) imaging, and cross sectional and en face OCT were performed in a case of BCD. The level of the crystals in the retina were analyzed.
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
Br J Ophthalmol
July 2024
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, Beijing, China
Purpose: To qualitatively and quantitatively characterise the genotypes and phenotypes of Bietti's crystalline dystrophy (BCD) in a cohort of patients.
Design: Cross-sectional and observational study.
Methods: Clinically confirmed BCD patients were recruited for genotyping and phenotyping.