Search Our Scientific Publications & Authors

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 2018 Sep 4. 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

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 Jul 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

Graefes Arch Clin Exp Ophthalmol 2018 Sep 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 Sep 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

Invest Ophthalmol Vis Sci 2017 04;58(4):2413-2420

Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand 6Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA).

Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Read More

Clin Exp Ophthalmol 2017 May 18;45(4):421-424. Epub 2017 Jan 18.

Department of Ophthalmology, Faculty of Medical and Health Science, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.

Eur J Hum Genet 2017 04 4;25(4):461-471. Epub 2017 Jan 4.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA.

To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples from 58 unrelated patients with clinical diagnoses of BCD. Exons and flanking intronic regions of the CYP4V2 gene were dideoxy DNA sequenced. Read More

Ophthalmic Genet 2016 12 30;37(4):445-452. Epub 2016 Mar 30.

a Scheie Eye Institute and Perelman Center for Advanced Medicine, University of Pennsylvania , Philadelphia , Pennsylvania , USA.

Purpose: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin; Genentech/Roche).

Methods: A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p. Read More

Turk J Ophthalmol 2016 Jun 6;46(3):144-147. Epub 2016 Jun 6.

Gülhane Military Medical Academy, Department of Ophthalmology, Ankara, Turkey.

A 44-year-old female patient without any known systemic or ocular disease presented with progressive visual loss and night vision disturbance. Visual acuity was 0.6 in the right eye and 0. Read More

Retin Cases Brief Rep 2018 Spring;12(2):111-114

Department of Ophthalmology, Istanbul Medipol University, Istanbul, Turkey.

Purpose: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD).

Methods: Case report.

Results: A 20-year-old woman presented with diminished vision in her right eye. Read More

Retina 2017 Jun;37(6):1193-1202

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

Purpose: To compare atrophy of the choroid and retina between Bietti crystalline dystrophy (BCD) patients and EYS-related retinitis pigmentosa (RP) patients with a similar degree of central visual field defects, age, and axial length (AL).

Methods: Nine eyes of nine BCD patients with CYP4V2 mutations (BCD group) were examined. Moreover, we selected 10 eyes of 10 RP patients with EYS mutations matched for age, axial length, and mean deviation (measured with the 10-2 SITA standard program; EYS-RP group), and 10 eyes of 10 normal volunteers matched for age and axial length (control group). Read More

Orv Hetil 2016 Aug;157(33):1299-303

Patológiai Intézet, Neuropatológiai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.

The human cornea is rich in extracellular matrix. The stroma constitutes the main thickness of the cornea, which consists of collagens and proteoglycans mainly. The epithelial-stromal and stromal dystrophies of the cornea are either autosomal dominant or recessive inherited disorders, which are unrelated to inflammation or trauma. Read More

Klin Monbl Augenheilkd 2016 Jun 17;233(6):708-12. Epub 2016 Jun 17.

Department of Ophthalmology, Louisiana State University LSU Eye Center, New Orleans, Louisiana, United States.

Purpose: The first Oskar Fehr lecture is given in honour of Professor Fehr, a well respected ophthalmologist, who was head physician of the Department of Eye Diseases at the Rudolf Virchow Hospital from 1918. He practiced there until 1938, when he was forbidden to enter the clinic because he was Jewish and subject to the anti-Semitic laws that were instituted after the rise of the Nazi party. Dr. Read More

Asia Pac J Ophthalmol (Phila) 2016 Jul-Aug;5(4):245-52

From the *Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong; and †2010 Retina and Macula Centre, Kowloon, Hong Kong.

Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. CYP4V2 has been identified as the causative gene for BCD. The CYP4V2 gene belongs to the cytochrome P450 superfamily and encodes for fatty acid ω-hydroxylase of both saturated and unsaturated fatty acids. Read More

J Lipid Res 2016 07 27;57(7):1286-99. Epub 2016 Apr 27.

Departments of Molecular Genetics University of Texas Southwestern Medical Center, Dallas, TX 75390-9046

UbiA prenyltransferase domain-containing protein-1 (UBIAD1) utilizes geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4. Previously, we found that sterols trigger binding of UBIAD1 to endoplasmic reticulum (ER)-localized HMG-CoA reductase, the rate-limiting enzyme in synthesis of cholesterol and nonsterol isoprenoids, including GGpp. This binding inhibits sterol-accelerated degradation of reductase, which contributes to feedback regulation of the enzyme. Read More

Exp Eye Res 2016 05 10;146:154-62. Epub 2016 Mar 10.

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing 100005, PR China. Electronic address:

Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. It is caused by a mutation in the CYP4V2 gene. In this study, 43 Chinese BCD families were recruited; most patients manifested the characteristic phenotype of BCD, with 2 families initially misdiagnosed with retinitis pigmentosa. Read More

Int Ophthalmol 2016 Dec 10;36(6):867-873. Epub 2016 Mar 10.

Ophthalmic Surgery, Augenärzte am Markt, Halle, Germany.

The purpose of this study was to report on two novel missense mutations of the cornea-specific TGFBI gene in one single patient and in two generations of a family diagnosed with unique corneal dystrophy (CD) phenotypes. Ophthalmologic examination, in several cases ocular coherence tomography of the anterior segment (AS-OCT), was performed in 21 affected patients and in two unaffected members of one affected family. Coding regions of the TGFBI gene were direct sequenced in all 23 individuals. Read More

Eye (Lond) 2016 05 26;30(5):705-12. Epub 2016 Feb 26.

Department of Imaging, University Eye Clinic Maastricht, Maastricht, The Netherlands.

PurposeTo study the outer retinal tubules using spectral domain optical coherence tomography and adaptive optics and in patients with Bietti's crystalline dystrophy.MethodsTen eyes of five subjects from five independent families with Bietti's crystalline Dystrophy (BCD) were characterized with best-corrected visual acuity (BCVA), full-field electroretinography, and fundus autofluorescence (FAF). High-resolution images were obtained with the spectral domain optical coherence tomography (SD-OCT) and adaptive optics (AO). Read More

Oxid Med Cell Longev 2016 10;2016:3164734. Epub 2016 Jan 10.

Department of Ophthalmology, Poznan City Hospital, Ulica Szwajcarska 3, 61-285 Poznań, Poland; Chair of Ophthalmology, Medical Faculty, University of Warmia and Mazury, Ulica Żołnierska 14 C, 10-719 Olsztyn, Poland.

The reactive oxygen species (ROS) form under normal physiological conditions and may have both beneficial and harmful role. We search the literature and current knowledge in the aspect of ROS participation in the pathogenesis of anterior and posterior eye segment diseases in adults. ROS take part in the pathogenesis of keratoconus, Fuchs endothelial corneal dystrophy, and granular corneal dystrophy type 2, stimulating apoptosis of corneal cells. Read More

Korean J Ophthalmol 2016 Feb 21;30(1):81-3. Epub 2016 Jan 21.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

Cornea 2016 Apr;35(4):572-5

*Ophthalmology and †Nephrology, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada; and ‡Pediatric Ophthalmology, Kellogg Eye Center, University of Michigan, Ann Arbor, MI.

Purpose: To describe the slit-lamp appearance and corneal confocal microscopy of autosomal dominant punctiform and polychromatophilic pre-Descemet corneal dystrophy in 3 members of the same family.

Methods: Slit-lamp examination of a 9-year-old boy showed bilateral polychromatophilic corneal opacities in a pre-Descemet membrane location evenly deposited limbus to limbus, both horizontally and vertically, with an intervening clear cornea. The corneal endothelium was normal on corneal confocal microscopy, with hyperreflective opacities of various sizes located pre-Descemet membrane. Read More

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8158-65

Department of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University, Montreal, Quebec, Canada 2McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada.

Purpose: Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most retinal degenerations are restricted to the retina, but photoreceptor degenerations can also be found in a wide variety of systemic diseases. Read More

Am J Ophthalmol 2016 Jan 30;161:196-205.e1. Epub 2015 Oct 30.

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

Purpose: To evaluate photoreceptors in Bietti crystalline dystrophy patients with CYP4V2 mutations using high-resolution images of the macula obtained with adaptive optics scanning laser ophthalmoscopy (AO-SLO).

Design: Prospective observational case series with comparison to healthy controls.

Methods: Seven eyes of 7 Bietti crystalline dystrophy patients with CYP4V2 mutations and 12 normal eyes of 12 age- and axial length-matched healthy volunteers were studied. Read More

Prog Mol Biol Transl Sci 2015 20;134:99-115. Epub 2015 Jun 20.

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

The International Committee for Classification of Corneal Dystrophies (IC3D) provides updated data to ophthalmologists by incorporating traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Recent advances in the genetics of corneal dystrophies facilitate more precise classifications and elucidate each classification's molecular mechanisms. Unfortunately, the molecular mechanisms and underlying pathogenic mechanisms have remained obscure, with the exception of Schnyder corneal dystrophy (CD), granular CD type 2 (GCD2), and Fuch's endothelial CD. Read More

Indian J Ophthalmol 2015 May;63(5):391-3

Smt. Kanuri Santhamma Retina Vitreous Centre, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To evaluate changes in choroidal thickness (CT) in inherited retinal diseases and its relationship with age, spherical equivalent, visual acuity, and macular thickness.

Methods: Retrospective analysis of 51 eyes with features of retinal dystrophy of 26 subjects, who underwent enhanced depth imaging using spectral domain (SD) optical coherence tomography (OCT), were included. The CT measurements were made at the fovea and at 5 points with an interval of 500 microns in both directions, nasal and temporal from the fovea and were compared with age-matched healthy subjects. Read More

Int J Ophthalmol 2015 18;8(3):465-9. Epub 2015 Jun 18.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing 100730, China.

Aim: To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy (BCD) and to provide clinical features of these patients. BCD is a rare monogenic autosomal recessively inherited disorder characterized by the presence of crystals in the retina and retinal pigment epithelium atrophy. Mutations in the CYP4V2 gene have been found to be causative for BCD. Read More

Retina 2015 Oct;35(10):2074-84

*Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China; and †Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China.

Purpose: To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple imaging modalities.

Methods: Sixteen participants clinically diagnosed as BCD were included in the retrospective study and were categorized into 3 stages according to fundus photography. Eleven patients were genetically confirmed. Read More

Clin Ophthalmol 2015 15;9:645-8. Epub 2015 Apr 15.

Department of Ophthalmology, Medical College of Virginia Campus, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

Infrared imaging dramatically increased the number of crystalline deposits visualized compared with clinical examination, standard color fundus photography, and red free imaging in patients with Bietti's crystalline dystrophy. We believe that this imaging modality significantly improves the sensitivity with which these lesions are detected, facilitating earlier diagnosis and may potentially serve as a prognostic indicator when examined over time. Read More

Ophthalmology 2015 Apr;122(4):e22

Sarikamis Military Hospital, Department of Ophthalmology, Kars, Turkey.

JAMA Ophthalmol 2015 Mar 12;133(3):e143514. Epub 2015 Mar 12.

FASEB J 2015 Jun 10;29(6):2628-39. Epub 2015 Mar 10.

*Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, and Molecular Aging and Development Laboratory, Boston University School of Medicine, Boston, Massachusetts, USA; and Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas, USA

FE65 and FE65L1 are cytoplasmic adaptor proteins that bind a variety of proteins, including the amyloid precursor protein, and that mediate the assembly of multimolecular complexes. We previously reported that FE65/FE65L1 double knockout (DKO) mice display disorganized laminin in meningeal fibroblasts and a cobblestone lissencephaly-like phenotype in the developing cortex. Here, we examined whether loss of FE65 and FE65L1 causes ocular and muscular deficits, 2 phenotypes that frequently accompany cobblestone lissencephaly. Read More