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Gene Ther 2020 Jun 1. 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 Apr 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

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

J Curr Ophthalmol 2019 Jun 2;31(2):172-179. Epub 2019 Mar 2.

School of Biology, University College of Science, University of Tehran, Tehran, Iran.

Purpose: To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein.

Methods: The eleven exons of were sequenced in the DNA of the proband of the Iranian BCD family. The putative disease-causing variation was screened in all affected and non-affected members. Read More

Ophthalmol Retina 2019 06 7;3(6):500-509. Epub 2019 Feb 7.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

Purpose: To study long-term macular changes by spectral-domain (SD) OCT in patients with Sjögren-Larsson syndrome (SLS).

Design: Retrospective cohort study.

Participants: Twenty-two patients with genetically proven SLS (12 female, 10 male; median age, 21 years; range, 3-47 years) were included in the study. Read More

QJM 2020 Jan;113(1):66

Department of Ophthalmology, Advanced Eye Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Turk J Ophthalmol 2019 Apr;49(2):106-108

Dokuz Eylül University Faculty of Medicine, Department of Ophthalmology, İzmir, Turkey

A woman with Bietti’s crystalline dystrophy (BCD) was first examined when she was 27 years of age and has been followed for 10 more years. The disease course was monitored initially with spectral domain-optical coherence tomography and then with swept-source optical coherence tomography angiography (OCTA). OCTA analysis showed that choroidal vessels could be visualized at the outer retinal layer segmentation due to retinal pigment epithelial atrophy and blood flow was reduced at the level of choroidal segmentation. Read More

Ophthalmol Retina 2018 10 4;2(10):1071-1077. Epub 2018 Apr 4.

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Purpose: To evaluate the diagnostic usefulness of multimodal imaging in patients with Bietti crystalline dystrophy (BCD).

Design: Retrospective cross-sectional study.

Participants: Patients with chorioretinal dystrophy accompanied by crystalline-like deposits. Read More

Acta Ophthalmol 2019 Nov 2;97(7):e987-e992. Epub 2019 May 2.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Purpose: To describe the ocular findings of 12 subjects with paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS).

Methods: Ocular examination included corneal spectral domain optical coherence tomography. In three individuals with an initial diagnosis of a lattice or Thiel-Behnke corneal dystrophy, the TGFBI gene was screened by conventional Sanger sequencing. Read More

Cornea 2019 Jun;38(6):758-760

Research Unit for Rare Diseases First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic First Faculty of Medicine, Charles University, Prague, Czech Republic.

Purpose: To report a simultaneous occurrence of 2 rare corneal dystrophies.

Methods: A 30-year-old man with a family history of posterior polymorphous corneal dystrophy type 3 (PPCD3) was invited for ophthalmic examination. Sanger sequencing of the coding regions and intron/exon boundaries of disease-associated genes, ZEB1 and UBIAD1, was performed. Read More

Med Sci Monit 2019 Mar 28;25:2274-2277. Epub 2019 Mar 28.

Department of Ophthalmology, University of Debrecen, Faculty of Medicine, Debrecen, Hungary.

BACKGROUND The aim of this study was to present ophthalmological findings regarding Alport syndrome and report refractometry data and to present possible early signs of the syndrome. MATERIAL AND METHODS Seven patients suffering from Alport syndrome were referred to the Department of Ophthalmology at the University of Debrecen between January 1st, 2014, and December 31st, 2015. All patients underwent slit lamp evaluation and dilated fundus biomicroscopy, with special attention paid to lenticonus and retinal changes. Read More

JCI Insight 2019 03 21;4(6). Epub 2019 Mar 21.

National Eye Institute, NIH, Bethesda, Maryland, USA.

The heterogeneity of individual cells in a tissue has been well characterized, largely using ex vivo approaches that do not permit longitudinal assessments of the same tissue over long periods of time. We demonstrate a potentially novel application of adaptive optics fluorescence microscopy to visualize and track the in situ mosaicism of retinal pigment epithelial (RPE) cells directly in the human eye. After a short, dynamic period during which RPE cells take up i. Read More

Elife 2019 02 20;8. Epub 2019 Feb 20.

Departments of Molecular Genetics, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, United States.

Autosomal-dominant Schnyder corneal dystrophy (SCD) is characterized by corneal opacification owing to overaccumulation of cholesterol. SCD is caused by mutations in UBIAD1, which utilizes geranylgeranyl pyrophosphate (GGpp) to synthesize vitamin K. Using cultured cells, we previously showed that sterols trigger binding of UBIAD1 to the cholesterol biosynthetic enzyme HMG CoA reductase (HMGCR), thereby inhibiting its endoplasmic reticulum (ER)-associated degradation (ERAD) (Schumacher et al. Read More

Am J Ophthalmol 2019 03 19;199:258-259. Epub 2018 Dec 19.

Rochester, Minnesota, USA.

Adv Exp Med Biol 2018;1085:193-195

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Bietti crystalline dystrophy (BCD) has been estimated to occur in 1 in 67,000 people; it is more common in people of East Asian descent. Read More

Cornea 2019 May;38(5):635-638

Department of Ophthalmology, McGill University, Montreal, QC, Canada.

Purpose: To report an unusual case of bilateral crystalline keratopathy presenting several years after a laser in situ keratomileusis (LASIK) procedure.

Methods: Case report and review of the literature.

Results: A healthy 42-year-old woman with post-LASIK ectasia, treated with long-term corneoscleral contact lenses, developed new-onset crystalline keratopathy in both eyes. Read More

J Fr Ophtalmol 2018 Dec 13;41(10):920-925. Epub 2018 Nov 13.

Aix-Marseille université, 13284 Marseille, France; Service d'ophtalmologie, hôpital de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille, France.

Introduction: The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now.

Case Report: We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects. Read More

Mol Vis 2018 26;24:700-711. Epub 2018 Oct 26.

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing, China.

Purpose: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in . The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD.

Methods: Ophthalmological evaluations were performed in all patients. Read More

Indian J Ophthalmol 2018 Oct;66(10):1478-1480

Department of Cornea, Anterior Segment and Refractive Services, C L Gupta Eye Institute, Ram Ganga Vihar Phase II, Moradabad, Uttar Pradesh, India.

We report a case of a 46-year-old female who developed infectious crystalline keratopathy (ICK) after Descemet's stripping endothelial keratoplasty (DSEK). She underwent DSEK for pseudophakic corneal edema in her left eye. Ten weeks after the procedure, the patient presented with complaints of blurred vision, redness in eye, and ocular pain. Read More

BMC Ophthalmol 2018 Sep 17;18(1):250. Epub 2018 Sep 17.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.

Background: The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands.

Methods: We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalmic assessment included spectral domain optical coherence tomography (SD-OCT) of one individual with advanced disease, and SD-OCT and confocal microscopy of a child with early stages of disease. Read More

Rom J Ophthalmol 2018 Apr-Jun;62(2):175-180

Laser Vision Med, Constanta, Romania.

to highlight the diagnostic and therapeutic challenges in a case with central and peripheral corneal lesions. We present the preoperative investigations: anterior segment optical coherence tomography and ultrasound biomicroscopy; The excised cornea has been examined histopathologically. Preoperative assessment showed that peripheral lesion was not ectatic; Histopathological examination points to a possible corneal degeneration, with posttraumatic or infectious etiology for the peripheral lesion and gives some reasons to sustain the diagnosis of Schnyder's dystrophy for the central lesion. Read More

Acta Ophthalmol 2019 Feb 4;97(1):e116-e121. Epub 2018 Sep 4.

National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore, Singapore.

Purpose: To assess choroidal structural changes in patients with retinal dystrophies using choroidal vascularity index (CVI), a novel optical coherence tomography (OCT) based tool.

Methods: This retrospective study included 26 patients with retinal dystrophies (17 with retinitis pigmentosa, four with Stargardt disease, three with cone-rod dystrophy, one each with Best disease and Bietti crystalline dystrophy) and 32 healthy controls. Subfoveal OCT images were used for analysis. Read More

Graefes Arch Clin Exp Ophthalmol 2018 Nov 6;256(11):2127-2134. Epub 2018 Aug 6.

Department of Histology and Embryology, Center of Biostructure Research, Medical University of Warsaw, T. Chałubińskiego 5, 02-004, Warsaw, Poland.

Purpose: Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients with SCD.

Methods: Individuals (n = 37) originating from four Polish SCD families were subjected for a complete ophthalmological check-up and genetic testing. Read More

Retin Cases Brief Rep 2018 Jul 17. Epub 2018 Jul 17.

Eye Research Center,Farabi Eye Hospital, Tehran University of Medical Science, Tehran, Iran.

Purpose: To report a case of Bietti crystalline retinal dystrophy with cystoid macular edema (CME) that was successfully treated with topical carbonic anhydrase inhibitor.

Methods: A 35-year-old otherwise healthy woman, with a known case of Bietti crystalline retinal dystrophy, presented with progressive visual impairment in her right eye for 3 months. The best-corrected visual acuity was 20/50 in the right eye and 20/25 in the left eye. Read More

Sci Rep 2018 07 5;8(1):10219. Epub 2018 Jul 5.

Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.

Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene. In this study, we generated a mouse line carrying Ubiad1 N100S point mutation using the CRISPR/Cas9 technique to investigate the pathogenesis of SCD. In vivo confocal microscopy revealed hyper-reflective dot-like deposits in the anterior cornea in heterozygotes and homozygotes. Read More

Indian J Ophthalmol 2018 07;66(7):1024-1026

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy characterized by deposition of crystals in the retina. The purpose of this article is to describe retinal abnormalities in BCD using multimodal imaging. An 18-year-old girl presented with decrease of vision and nyctalopia. Read More

Expert Opin Biol Ther 2018 07 22;18(7):807-820. Epub 2018 Jun 22.

a Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences , University of Oxford , Oxford , UK.

Introduction: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis.

Areas Covered: The mechanism by which mutations in CHM cause choroideremia is still under debate. Read More

J Fr Ophtalmol 2018 May 16;41(5):e207-e209. Epub 2018 May 16.

Service d'ophtalmologie 5, centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France; Inserm UMR S 968, institut de la vision, Sorbonne Université, 75012 Paris, France. Electronic address:

Graefes Arch Clin Exp Ophthalmol 2018 09 4;256(9):1661-1667. Epub 2018 May 4.

Department of Ophthalmology, La Paz University Hospital, idiPaz, Sor Ángela de la Cruz road, number 9, 7A door, 28020, Madrid, Spain.

Purpose: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD).

Methods: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene.

Results: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance. Read More

Acta Ophthalmol 2018 Nov 25;96(7):e865-e873. Epub 2018 Apr 25.

Laboratory of Human Molecular Genetics, School of Medicine/Research Institute of Neurological Disabilities (IDINE), University of Castilla La-Mancha, Albacete, Spain.

Purpose: To identify the spectrum of disease-causing CYP4V2 variants in Spanish patients with clinically diagnosed Bietti crystalline dystrophy (BCD) over an 8-year period and to analyse the phenotype-genotype correlation of the identified variants.

Methods: Four unrelated Spanish probands with a clinical diagnosis of BCD were recruited. Ophthalmological examination included visual acuity (VA), slit lamp examination, in vivo corneal confocal microscopy, funduscopy and fluoresceinic angiography. Read More

Development 2018 04 23;145(8). Epub 2018 Apr 23.

Model Animal Research Center, Nanjing University, Nanjing, 210031, China

RNA helicases from the DEAD-box family are found in almost all organisms and have important roles in RNA metabolism, including RNA synthesis, processing and degradation. The function and mechanism of action of most of these helicases in animal development and human disease remain largely unexplored. In a zebrafish mutagenesis screen to identify genes essential for heart development we identified a mutant that disrupts the gene encoding the RNA helicase DEAD-box 39ab (). Read More

Proc Natl Acad Sci U S A 2018 04 26;115(15):3936-3941. Epub 2018 Mar 26.

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.

Bietti's crystalline dystrophy (BCD) is an intractable and progressive chorioretinal degenerative disease caused by mutations in the 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 mutation and successfully established an in vitro model of BCD, i. Read More

Indian J Ophthalmol 2018 Mar;66(3):367-372

Departamento de Física Teórica, Atómica y Óptica, Universidad de Valladolid; Instituto Universitario de Oftalmobiología Aplicada, Universidad de Valladolid; School of Optometry, IOBA Eye Institute, University of Valladolid, Valladolid, Spain; Faculty of Health and Human Sciences, Plymouth University, PL6 8BH Plymouth, England.

Current corneal assessment technologies make the process of corneal evaluation extremely fast and simple. Several devices and technologies allow to explore and manage patients better. Optical coherence tomography (OCT) technology has evolved over the years, and hence a detailed evaluation of anterior segment (AS) structures such as cornea, conjunctiva, tear meniscus, anterior chamber, iris, and crystalline lens has been possible in a noncontact and safe procedure. Read More

Cornea 2018 May;37(5):554-559

Baptist Eye Institute, Kyoto, Japan.

Purpose: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation.

Methods: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence. Read More

Br J Ophthalmol 2018 09 2;102(9):1208-1212. Epub 2017 Dec 2.

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto City, Japan.

Background/aims: This study aimed to evaluate blood flow in the choriocapillaris in patients with Bietti crystalline dystrophy (BCD) with mutations using optical coherence tomography angiography (OCTA), and to explore the parameters associated with visual function.

Methods: This prospective case-series study included 13 eyes of 13 consecutive patients with BCD with mutations and 20 healthy eyes. Using OCTA, we obtained en face images of blood flow in the choriocapillaris. Read More

Graefes Arch Clin Exp Ophthalmol 2017 Dec 15;255(12):2407-2414. Epub 2017 Oct 15.

Department of Ophthalmology, University of Cologne, Kerpener Strasse 62 -, 50924, Cologne, Germany.

Purpose: Our purpose was to investigate the impact of lens status of corneal donors on the two-year course and clinical outcome of Descemet membrane endothelial keratoplasty (DMEK).

Methods: In 181 DMEK surgeries, 136 phakic and 45 pseudophakic donor corneas were grafted. In this retrospective audit we compared the lens status of corneal donors regarding the outcome measures best spectacle-corrected visual acuity (BSCVA), central corneal thickness (CCT), and endothelial cell density (ECD) at 1, 3, 6, 12, and 24 months, as well as intra- and postoperative complication rates and graft detachment rates requiring re-bubbling. Read More

Histol Histopathol 2018 May 5;33(5):455-462. Epub 2017 Sep 5.

Center of Eye Research, Department of Ophthalmology, Oslo University Hospital, University of Oslo, Oslo, Norway.

Introduction: Multilamellar bodies (MLBs) are concentric cytoplasmic membranes which form through an autophagy-dependent mechanism. In the cornea, the presence of MLBs is associated with Schnyder corneal dystrophy (SCD). Ex vivo 3D modelling of the corneal stroma and SCD can help study pathogenesis and resolution of the disorder. Read More

J Ophthalmol 2017 7;2017:4156386. Epub 2017 Aug 7.

Southwest Hospital and Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China.

Purpose: To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes.

Methods: A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Read More

J Ophthalmic Vis Res 2017 Jul-Sep;12(3):338-341

Ophthalmic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Purpose: To describe a 42-year-old man, a known case of Bietti crystalline dystrophy who underwent surgery for unilateral full thickness macular hole.

Case Report: Clinical features, color fundus photographs, and optical coherence tomography, electroretinography, and electrooculography findings of the patient are reported. His visual acuity improved from counting fingers to 20/50 after pars plana deep vitrectomy with internal limiting membrane (ILM) peeling and gas injection. Read More

Invest Ophthalmol Vis Sci 2017 08;58(10):3871-3878

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.

Purpose: We compare the choroidal vascular area between Bietti crystalline dystrophy (BCD) patients with CYP4V2 mutations, retinitis pigmentosa (RP) patients with EYS mutations, and normal controls, and investigate the correlation between choroidal vascular area and associated parameters.

Methods: This prospective case-series study included consecutive nine eyes of nine BCD patients with CYP4V2 mutations (BCD group), 16 eyes of 16 RP patients with EYS mutations (EYS-RP group), and 16 eyes of 16 normal volunteers matched for age and axial length (control group). Using swept-source optical coherence tomography, we obtained en face images of the choroidal vasculature at the midpoint of the choriocapillaris layer-Sattler's layer (inner choroid) and Haller's layer (outer choroid). Read More

Br J Ophthalmol 2018 02 11;102(2):187-194. Epub 2017 Jul 11.

Department of Pharmaceutics, University of Washington, Seattle, Washington, USA.

Background: Bietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the gene were identified as the cause of BCD. Here, we describe the report of a homozygous point mutation in a patient with BCD and provide detailed characterisation of functional and structural changes over 20 years. Read More

BMJ Case Rep 2017 Jun 14;2017. Epub 2017 Jun 14.

Sullivan & Nicolaides Pathology, Brisbane, Queensland, Australia.

A 68-year-old woman presented with infectious crystalline keratopathy 4 months after she underwent a combined phacoemulsification and Descemet's stripping endothelial keratoplasty for Fuch's endothelial dystrophy in her left eye. After 5 months of topical moxifloxacin 1%, the infiltrate responded well but had not completely resolved, with the resulting endothelial failure requiring a penetrating keratoplasty 9 months after the initial operation. Microbiology identified with the histopathology demonstrating bacterial colonies within the graft interface. Read More