437 results match your criteria Dystrophy Crystalline

AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.

Sci Rep 2022 Jun 9;12(1):9525. Epub 2022 Jun 9.

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Level 7, 32 Gisborne Street, East Melbourne, VIC, 3002, Australia.

Bietti crystalline dystrophy (BCD) is an inherited retinal disease (IRD) caused by mutations in the CYP4V2 gene. It is a relatively common cause of IRD in east Asia. A number of features of this disease make it highly amenable to gene supplementation therapy. Read More

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Multimodal Imaging Observation in Different Progressive Types of Bietti Crystalline Dystrophy.

J Ophthalmol 2022 24;2022:7426052. Epub 2022 May 24.

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.

Objective: The aim of the study is to observe the difference in progression between type 1 and type 2 Bietti crystalline dystrophy (BCD) using multimodal imaging.

Methods: A retrospective clinical study was performed with six BCD patients who underwent multimodal imaging twice in Hebei Provincial Eye Hospital from October 2015 to December 2020. Multimodal imaging includes color fundus photography, fundus autofluorescence (AF), infrared autofluorescence (IRAF), fundus fluorescein angiography (FFA), and spectral domain optical coherence tomography (SD-OCT). Read More

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Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway.

Invest Ophthalmol Vis Sci 2022 05;63(5):32

Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.

Purpose: Bietti crystalline dystrophy (BCD) is a progressive retinal degenerative disease primarily characterized by numerous crystal-like deposits and degeneration of retinal pigment epithelium (RPE) and photoreceptor cells. CYP4V2 (cytochrome P450 family 4 subfamily V member 2) is currently the only disease-causing gene for BCD. We aimed to generate a zebrafish model to explore the functional role of CYP4V2 in the development of BCD and identify potential therapeutic targets for future studies. Read More

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Multimodal imaging of a rare cause of diffuse chorioretinal atrophy: Bietti crystalline dystrophy.

J Fr Ophtalmol 2022 06 4;45(6):660-663. Epub 2022 May 4.

Department of Ophthalmology, Mohammed V University, Mohammed V Military Training Hospital, avenue of FAR, hay Riyad, 10100 Rabat, Morocco.

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A novel phenotype associated with the R162W variant in the gene.

Ophthalmic Genet 2022 Apr 27:1-8. Epub 2022 Apr 27.

Department of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden.

Background: Pathogenic variants in 3 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae. Reduced dark adaptation and reduced scotopic rod b-waves have also been described. Read More

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Characterization of West African Crystalline Macular Dystrophy in the Ghanaian Population.

Ophthalmol Retina 2022 Mar 18. Epub 2022 Mar 18.

Department of Ophthalmology, Belfast Health & Social Care Trust, Belfast, United Kingdom.

Objective: West African crystalline maculopathy (WACM) is characterized by the presence of macular hyperrefractile crystal-like deposits. Although the underlying pathophysiology has not been elucidated, a few biologic drivers have been proposed. We analyzed a large WACM case series to gain a more robust understanding of its features and etiology. Read More

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A novel and efficient murine model of Bietti crystalline dystrophy.

Dis Model Mech 2022 03 1;15(3). Epub 2022 Mar 1.

Department of Ophthalmology, Shanghai General Hospital (Shanghai First People's Hospital), Shanghai Jiao Tong University School of Medicine, 100 Haining Road, Shanghai, China200080.

Bietti crystalline dystrophy (BCD) is an autosomal recessive inherited retinal disease, resulting in blindness in most patients. The etiology and development mechanism of it remain unclear. Given the defects in previous mouse models of BCD, we generated a new Cyp4v3-/- mouse model, using CRISPR/Cas9 technology, for investigating the pathogenesis of BCD. Read More

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Analysis of Radial Peripapillary Capillary Density in Patients with Bietti Crystalline Dystrophy by Optical Coherence Tomography Angiography.

Biomed Environ Sci 2022 Feb;35(2):107-114

Beijing Institute of Ophthalmology, Beijing Ophthalmology, and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100005, China.

Objective: We wanted to investigate the radial peripapillary capillary (RPC) network in patients with Bietti crystalline dystrophy (BCD).

Methods: We compared RPC densities in the disk and different peripapillary regions, obtained using optical coherence tomography angiography in 22 patients with BCD (37 eyes) and 22 healthy subjects (37 eyes). The BCD group was then divided into Stage 2 and Stage 3 subgroups based on Yuzawa staging, comparing the RPC densities of the two. Read More

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February 2022

Bietti crystalline dystrophy: Role of multimodal imaging and optical coherence tomography angiography.

J Fr Ophtalmol 2022 04 30;45(4):e191-e194. Epub 2021 Dec 30.

Service d'ophtalmologie, hôpital Charles-Nicolle de Tunis, boulevard du 9-Avril 1938, 1006 Tunis, Tunisia.

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Retina 2022 04;42(4):797-806

Department of Ophthalmology, National Taiwan University, Taipei, Taiwan.

Purpose: To investigate the relationship between different CYP4V2 disease-causing variants and disease severity in Bietti crystalline dystrophy (BCD).

Methods: Twenty-one subjects from 19 unrelated families with a clinical diagnosis of BCD were enrolled. A novel severity prediction score for BCD based on the predicted molecular impact of CYP4V2 variants was applied for grouping and subsequent analyses. Read More

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Multidrug-Resistant Stenotrophomonas maltophilia Keratitis in a Penetrating Keratoplasty Patient.

Cureus 2021 Dec 14;13(12):e20412. Epub 2021 Dec 14.

Ophthalmology, Eastbourne District General Hospital, Eastbourne, GBR.

We describe the management of a case of multidrug-resistant  in a patient who had previously undergone photorefractive keratectomy and subsequent penetrating keratoplasty for Schnyder's crystalline corneal dystrophy. This pathogen is rare and, in this case, was multi-drug resistant. Read More

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December 2021

[Generation and characterization of gene knockout mice].

Beijing Da Xue Xue Bao Yi Xue Ban 2021 Dec;53(6):1099-1106

Department of Ophthalmology, Peking University Third Hospital; Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing 100191, China.

Objective: Bietti crystalline dystrophy (BCD) is a rare degenerative eye disease caused by mutations in the gene, and is the murine ortholog to . To better understand the molecular pathogenesis of this disease and to explore the potential treatment we have established a knock-out mouse model.

Methods: mice were generated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 in embryonic stem cells of C57BL/6J mice. Read More

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December 2021

A case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings.

North Clin Istanb 2021 6;8(5):521-524. Epub 2021 Oct 6.

Department of Ophthalmology, Health Sciences University, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey.

In this study, ophthalmologic examination findings, fundus fluorescein angiography, optic coherence tomography (OCT), visual field testing, electrophysiological, and systemic laboratory findings of a 43-year-old female patient who presented with blurry vision and who had retinal and corneal deposits were examined. Our patients' best-corrected visual acuity was 0.9 bilaterally. Read More

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October 2021

A convenient test system for the identification of CYP4V2 inhibitors.

Mol Vis 2021 6;27:601-607. Epub 2021 Oct 6.

School of Pharmaceutical Science and Technology, Tianjin University, Tianjin 300072, China.

Purpose: Polymorphisms in the gene that codes for the human cytochrome P450 enzyme CYP4V2 are a cause of Bietti crystalline dystrophy (BCD). Therefore, inhibition of CYP4V2 activity may well be a cause of visual disability. However, monitoring the fatty acid hydroxylation reactions catalyzed by this enzyme is tedious and not well suited for inhibitor screening. Read More

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January 2022

Naturally occurring UBIAD1 mutations differentially affect menaquinone biosynthesis and vitamin K-dependent carboxylation.

FEBS J 2022 05 1;289(9):2613-2627. Epub 2021 Dec 1.

Department of Biology, University of North Carolina at Chapel Hill, NC, USA.

UbiA prenyltransferase domain-containing protein-1 (UBIAD1) is responsible for the biosynthesis of menaquinone-4 (MK-4), a cofactor for extrahepatic carboxylation of vitamin K-dependent (VKD) proteins. Genetic variations of UBIAD1 are mainly associated with Schnyder corneal dystrophy (SCD), a disease characterized by abnormal accumulation of cholesterol in the cornea. Results from in vitro studies demonstrate that SCD-associated UBIAD1 mutations are defective in MK-4 biosynthesis. Read More

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CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).

Biochem Pharmacol 2022 01 16;195:114841. Epub 2021 Nov 16.

Northeast Ohio Medical Universities, Department of Integrative Medical Sciences, Rootstown, OH 44272, United States.

Fatty acids are essential in maintaining cellular homeostasis by providing lipids for energy production, cell membrane integrity, protein modification, and the structural demands of proliferating cells. Fatty acids and their derivatives are critical bioactive signaling molecules that influence many cellular processes, including metabolism, cell survival, proliferation, migration, angiogenesis, and cell barrier function. The CYP4 Omega hydroxylase gene family hydroxylate various short, medium, long, and very-long-chain saturated, unsaturated and polyunsaturated fatty acids. Read More

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January 2022

Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.

Curr Eye Res 2022 Mar 2;47(3):436-442. Epub 2021 Nov 2.

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.

Objective: To investigate CYP4V2 gene variants and ocular clinical characteristics of Bietti corneoretinal crystalline dystrophy in China so as to provide more references for genotype and phenotype of BCD.

Methods: Sixteen Chinese probands were recruited in Beijing Tongren Hospital in a retrospective study. All patients underwent CYP4V2 gene detection and ophthalmic clinical examinations. Read More

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Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy.

J Genet Genomics 2022 Apr 26;49(4):380-383. Epub 2021 Oct 26.

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 100730, China. Electronic address:

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Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy.

Optom Vis Sci 2021 09;98(9):1031-1038

Laboratory of Experimental Optometry (Neuroscience), School of Optometry, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong.

Significance: Optometrists, as primary eye care providers, encounter patients with rare ocular disease such as Bietti crystalline dystrophy from time to time. Using advanced technologies, which are also useful in managing common ocular conditions, to facilitate a prompt diagnosis is highly recommended.

Purpose: This report describes a patient with clinically diagnosed Bietti crystalline dystrophy with findings on funduscopy, multimodal imaging, and visual electrophysiology. Read More

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September 2021

Bietti's crystalline dystrophy in an African American patient: an unusual racial demographic for a condition more common in individuals of East Asian descent.

Int J Ophthalmol 2021 18;14(8):1291-1292. Epub 2021 Aug 18.

Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, VA 23298, USA.

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Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.

J Ophthalmol 2021 31;2021:5581851. Epub 2021 Jul 31.

Ophthalmology Unit, "Sapienza" University of Rome, NESMOS Department, St. Andrea Hospital, Via di Grottarossa 1035/1039, Rome, Italy.

Near-infrared reflectance (NIR) is a noninvasive, contactless, and rapid in vivo imaging technique for visualizing subretinal alterations in the photoreceptor layer, retinal pigment epithelium, and choroid. The present report describes the application of this imaging method in retinal and choroidal pathologies affecting young patients where scarce cooperation, poor fixation, and intense glare sensation can result in a challenging clinical examination. A literature search of the MEDLINE database was performed using the terms "near-infrared reflectance" and "spectral-domain optical coherence tomography. Read More

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Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.

Cornea 2022 Jun 5;41(6):779-781. Epub 2021 Aug 5.

Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA; and.

Purpose: The aim of this study was to report the results of screening peroxiredoxin 3 (PRDX3) and PDZ domain-containing protein 8 (PDZD8) in a previously unreported pedigree with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD) to confirm that the PRDX3 mutation c.568G>C is the genetic basis of PPPCD.

Methods: Ophthalmologic examination of the proband and her affected father was performed with slit lamp biomicroscopy. Read More

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Functional study of SCCD pathogenic gene (Review).

Mol Med Rep 2021 Oct 9;24(4). Epub 2021 Aug 9.

Department of Cardiovascular Medicine, Tai'an City Central Hospital, Tai'an, Shandong 271000, P.R. China.

Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant genetic disorder that is characterized by progressive corneal opacity, owing to aberrant accumulation of cholesterol and phospholipids in the cornea. A number of SCCD affected families have been reported in the world since 1924, when it was first described. In 2007, the molecular basis of SCCD was demonstrated to be associated with a tumor suppressor, UbiA prenyltransferase domain‑containing 1 (UBIAD1), which was isolated from the bladder mucosa and demonstrated to be involved in vitamin K and CoQ10 biosynthesis. Read More

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October 2021

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

Ophthalmic Genet 2021 12 26;42(6):773-779. Epub 2021 Jul 26.

Oculogenetic Unit, Jules-Gonin University Eye Hospital, Lausanne, Switzerland.

Background: Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens cortex.

Material And Methods: Four consecutive adult patients from three different unrelated families presenting lens crystals associated with advanced genetically confirmed BCD were enrolled with advanced disease and long follow up (>12 years). Demographics, visual acuity, slit lamp biomicroscopy, lens and posterior pole photography, optical coherence tomography (OCT), autofluorescence, and screening for CYP4V2 type of mutation were performed. Read More

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December 2021

Intereye Symmetry in Bietti Crystalline Dystrophy.

Am J Ophthalmol 2022 03 18;235:313-325. Epub 2021 Jul 18.

From the Centre for Eye Research Australia, East Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., D.G.H., M.B.M., T.L.E.); Department of Surgery (Ophthalmology), University of Melbourne, Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., T.L.E.); Royal Victorian Eye and Ear Hospital, East Melbourne (Z.L., L.N.A., F.O., M.L.H., J.-H.W., D.G.H., T.L.E.).

Purpose: To evaluate anatomic and functional intereye symmetry among individuals with Bietti crystalline dystrophy (BCD) using clinical and multimodal imaging methods, with a focus on the number, area, and distribution of the characteristic retinal crystalline deposits.

Design: Observational case series with prospective and retrospective data.

Methods: Setting: Multicenter. Read More

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Prediction accuracy of conventional and total keratometry for intraocular lens power calculation in femtosecond laser-assisted cataract surgery.

Sci Rep 2021 06 18;11(1):12869. Epub 2021 Jun 18.

Department of Ophthalmology, Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea.

This study evaluated the accuracy of total keratometry (TK) and standard keratometry (K) for intraocular lens (IOL) power calculation in eyes treated with femtosecond laser-assisted cataract surgery. The retrospective study included a retrospective analysis of data from 62 patients (91 eyes) who underwent uneventful femtosecond laser-assisted cataract surgery with Artis PL E (Cristalens Industrie, Lannion, France) IOL implantation by a single surgeon between May 2020 and December 2020 in Severance Hospital, Seoul, South Korea. The new IOLMaster 700 biometry device (Carl Zeiss Meditec, Jena, Germany) was used to calculate TK and K. Read More

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Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.

Genes (Basel) 2021 05 10;12(5). Epub 2021 May 10.

Department of Ophthalmology, Federal University of São Paulo-UNIFESP, São Paulo, SP 04023-062, Brazil.

The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in , a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Read More

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Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.

BMC Ophthalmol 2021 May 28;21(1):239. Epub 2021 May 28.

Beijing Institute of Ophthalmology, Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, 100005, Beijing, People's Republic of China.

Background: Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1-5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression.

Methods: FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Read More

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New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.

Gene 2021 Jul 5;790:145698. Epub 2021 May 5.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen 518040, China; School of Optometry, Shenzhen University, Shenzhen 518040, China. Electronic address:

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of CYP4V2, usually progressing to legal blindness by the 5th or 6th decade of life. Here we identified CYP4V2 compound heterozygous mutations in two female siblings with BCD without subjective symptoms. After 381 pathogenic genes related to retinal diseases were screened by targeted sequence capture array techniques and confirmed by Sanger sequencing, two compound heterozygous mutations in CYP4V2 were found. Read More

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Retinal imaging in inherited retinal diseases.

Ann Eye Sci 2020 Sep 15;5. Epub 2020 Sep 15.

UCL Institute of Ophthalmology, University College London, London, UK.

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials. The scope of this review is to familiarize clinicians and scientists with the current landscape of retinal imaging in IRD. Read More

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September 2020