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Genes (Basel) 2021 May 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

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

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

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

Stem Cell Res 2021 May 7;53:102330. Epub 2021 Apr 7.

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. Electronic address:

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of BCD patient with CYP4V2 mutations. The reprogramming of this iPSC line was performed from skin fibroblast by using the Sendai-virus based approach. Read More

Retina 2021 Apr 8. Epub 2021 Apr 8.

Southwest Hospital / Southwest Eye Hospital, Army Medical University, Chongqing, China Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, China.

Purpose: To compare changes of chorioretinal blood perfusion between Bietti crystalline dystrophy (BCD) and typical retinitis pigmentosa (RP) and perform a staging and a longitudinal analysis of chorioretinal perfusion in BCD.

Methods: Twenty-eight BCD patients (56 eyes), 28 typical RP patients (56 eyes), and 28 healthy subjects (56 eyes) were enrolled. Macular structural parameters and subfoveal choroidal thickness were measured via optical coherence tomography. Read More

BMC Med Genomics 2021 Mar 10;14(1):74. Epub 2021 Mar 10.

Retinal Degeneration Research Lab, Biomedical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea.

Background: To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES.

Methods: We performed comprehensive molecular testing in 168 unrelated Korean IRD patients using WES. Read More

Ophthalmol Retina 2021 Feb 23. Epub 2021 Feb 23.

Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Purpose: To investigate the genotype and long-term clinical phenotype of patients with Bietti crystalline dystrophy (BCD) in Korea and Japan.

Design: Retrospective case series.

Participants: We analyzed 62 patients with clinical features of BCD who harbor pathogenic biallelic CYP4V2 variants in their homozygote or compound heterozygote. Read More

Ophthalmic Genet 2021 Jun 23;42(3):312-316. Epub 2021 Feb 23.

Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

: Retinitis pigmentosa GTPase regulator () gene mutations are a common cause of X-linked retinitis pigmentosa and X-linked cone-rod dystrophy. There have been no previous reports of association with crystalline retinopathy or pseudo-crystalline retinopathy.: We describe the history, clinical findings, retinal imaging, and electrodiagnostic studies of a patient with a tapetal-like reflex (TLR) and pseudo-crystalline retinopathy secondary to mutation. Read More

NPJ Genom Med 2021 Feb 19;6(1):16. Epub 2021 Feb 19.

Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.

Inherited 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. Read More

BMC Ophthalmol 2021 Feb 4;21(1):68. Epub 2021 Feb 4.

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, USA.

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. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Dec;37(12):1340-1343

Central Laboratory, the First Affiliated Hospital and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, Henan 471003, China.

Objective: The CYP4V2 gene of two pedigrees affected with Bietti crystalline corneoretinal dystrophy was analyzed to indentify the cause of the disease and provide a basis for clinical diagnosis.

Methods: The probands were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Read More

BMJ Open Ophthalmol 2020 28;5(1):e000592. Epub 2020 Oct 28.

USC Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

Objective: To describe the pattern of fundus autofluorescence (FAF) in Bietti's crystalline dystrophy (BCD).

Methods And Analysis: From 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. Read More

Invest Ophthalmol Vis Sci 2020 09;61(11):18

INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.

Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients. Read More

J Fr Ophtalmol 2020 Dec 1;43(10):1109-1110. Epub 2020 Sep 1.

Service d'ophtalmologie, centre hospitalo-universitaire de Nantes, 1, place Alexis-Ricordeau, 44000 Nantes, France.

BMC Ophthalmol 2020 Aug 15;20(1):331. Epub 2020 Aug 15.

Department of Ophthalmology and Vision Science, the Eye & ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, 200031, China.

Background: Bietti 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.

Methods: A 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. Read More

Nepal J Ophthalmol 2020 Jan;12(23):110-113

Department of Ophthalmology, Mustafa Kemal University Tayfur Ata Sökmen Faculty of Medicine, Hatay, Turkey.

Introduction: Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant, anterior stromal dystrophy described as progressive bilateral corneal opacification due to abnormal accumulation of cholesterol and phospholipids in the cornea. The clinical signs can change as the patient ages. SCD with different presentations may actually be misdiagnosed. Read More

Mol Ther 2020 12 25;28(12):2642-2661. Epub 2020 Jul 25.

Department of Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Prenatal Diagnostic Centre and Cord Blood Bank, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China; State Key Laboratory of Pharmaceutical Biotechnology, The University of Hong Kong, Hong Kong SAR, China. Electronic address:

Bietti's crystalline dystrophy (BCD) is an incurable retinal disorder caused by the polypeptide 2 of cytochrome P450 family 4 subfamily V (CYP4V2) mutations. Patients with BCD present degeneration of retinal pigmented epithelial (RPE) cells and consequent blindness. The lack of appropriate disease models and patients' RPE cells limits our understanding of the pathological mechanism of RPE degeneration. Read More

Gene Ther 2020 08 1;27(7-8):370-382. Epub 2020 Jun 1.

State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.

Lipid metabolic deficiencies are associated with many genetic disorders. Bietti crystalline dystrophy (BCD), a blindness-causing inherited disorder with changed lipid profiles, is more common in Chinese and Japanese than other populations. Our results reveal that mouse models lacking Cyp4v3 have less physiological and functional changes than those of BCD patients with this gene defect. Read More

Ophthalmic Genet 2020 04 13;41(2):194-197. Epub 2020 Apr 13.

Department of Ophthalmology, Sisli Hamidiye Etfal Teaching and Research Hospital, University of Health Sciences, Istanbul, Turkey.

: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder due to genetic defect in the CYP4V2 gene. BCD is a disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium and choriocapillaris. Our aim is to present ocular imaging findings of a patient with BCD. Read More

Am J Ophthalmol 2020 04 18;212:79-87. Epub 2019 Dec 18.

Netherlands Institute for Innovative Ocular Surgery (NIIOS), Rotterdam, Netherlands; Melles Cornea Clinic Rotterdam, Rotterdam, Netherlands; Amnitrans Eye Bank Rotterdam, Rotterdam, Netherlands; NIIOS-USA, San Diego, California, USA. Electronic address:

Purpose: To analyze 6-month results of 1000 consecutive Descemet membrane endothelial keratoplasty (DMEK) cases, and to evaluate if outcomes are influenced by surgical indication and preoperative lens status.

Design: Retrospective, interventional case series.

Methods: A series of 1000 eyes (738 patients) underwent DMEK mainly for Fuchs endothelial corneal dystrophy (FECD; 85. Read More

J Fr Ophtalmol 2020 Jan 9;43(1):e7-e10. Epub 2019 Dec 9.

University of Health Sciences, Beyoğlu Eye Research and Training Hospital, Istanbul, Turkey.

Biomolecules 2019 11 26;9(12). Epub 2019 Nov 26.

Experimental Atherosclerosis Section, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Lecithin:cholesterol acyltransferase (LCAT) is an enzyme secreted by the liver and circulates with high-density lipoprotein (HDL) in the blood. The enzyme esterifies plasma cholesterol and increases the capacity of HDL to carry and potentially remove cholesterol from tissues. Cholesterol accumulates within the extracellular connective tissue matrix of the cornea stroma in individuals with genetic deficiency of LCAT. Read More

Mol Vis 2019 31;25:654-662. Epub 2019 Oct 31.

Southwest Hospital/Southwest Eye Hospital, Army Medical University, Chongqing, China.

Purpose: To identify any novel mutations in in 85 Chinese families with Bietti corneoretinal crystalline dystrophy (BCD) by using next-generation sequencing, and to summarize the mutation spectrum in this population, along with any genotype-phenotype correlations.

Methods: A total of 90 patients with BCD from 85 unrelated Chinese families were recruited. All probands were analyzed by using gene chip-based next-generation sequencing, to capture and sequence all the exons of 57 known hereditary retinal degeneration-associated genes. Read More

Ophthalmic Genet 2019 10 22;40(5):461-465. Epub 2019 Oct 22.

Nuffield Laboratory of Ophthalmology, University of Oxford & Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

: Bietti crystalline corneoretinal dystrophy (BCD) (OMIM 210370) is a rare autosomal recessive retinal dystrophy typically characterized by multiple intraretinal crystals over the posterior pole of the retina. Degeneration of the retina and sclerosis of the choroidal vessels results in progressive night blindness and central visual field loss.: Detailed ophthalmic and genetic testing of the patient and his father were performed. Read More

Int J Ophthalmol 2019 18;12(9):1514-1516. Epub 2019 Sep 18.

Department of Ophthalmology, Elazig Health Sciences University, Elazig 23000, Turkey.

Ophthalmic Genet 2019 08 12;40(4):390-392. Epub 2019 Sep 12.

Moran Eye Center, University of Utah , Salt Lake City , UT , USA.

Int J Mol Sci 2019 Aug 31;20(17). Epub 2019 Aug 31.

Department of Pharmacology and Pharmacogenomics Research Center, Inje University College of Medicine, Inje University, Busan 47392, Korea.

Enzymes in the cytochrome P450 4 (CYP4) family are involved in the metabolism of fatty acids, xenobiotics, therapeutic drugs, and signaling molecules, including eicosanoids, leukotrienes, and prostanoids. As CYP4 enzymes play a role in the maintenance of fatty acids and fatty-acid-derived bioactive molecules within a normal range, they have been implicated in various biological functions, including inflammation, skin barrier, eye function, cardiovascular health, and cancer. Numerous studies have indicated that genetic variants of genes cause inter-individual variations in metabolism and disease susceptibility. Read More

Clin Ophthalmol 2019 30;13:1379-1399. Epub 2019 Jul 30.

Cooperative Research Network on Ophthalmology (OftaRed), Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain.

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering dots located at the corneal limbus is also a frequent finding. The CYP4V2 protein belongs to the cytochrome P450 subfamily 4 and is mainly expressed in the retina and the RPE and less expressed in the cornea. Read More

PLoS Genet 2019 07 19;15(7):e1008289. Epub 2019 Jul 19.

Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Wuhan University, Wuhan, China.

Schnyder corneal dystrophy (SCD) is a rare genetic eye disease characterized by corneal opacification resulted from deposition of excess free cholesterol. UbiA prenyltransferase domain-containing protein-1 (UBIAD1) is an enzyme catalyzing biosynthesis of coenzyme Q10 and vitamin K2. More than 20 UBIAD1 mutations have been found to associate with human SCD. Read More