18,638 results match your criteria Retinitis CMV
Transl Vis Sci Technol 2018 Nov 30;7(6):18. Epub 2018 Nov 30.
Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Purpose: We correlate optical coherence tomography (OCT) retinal layer thickness measurements with histology in wild-type and retinal degenerative pigs.
Methods: OCT scans were obtained using the Bioptigen Envisu R2200. In normal pigs, three eyes were imaged in vivo, and three eyes were imaged after enucleation. Read More
Med Hypothesis Discov Innov Ophthalmol 2018 ;7(4):140-155
UCL Institute of Ophthalmology, Moorfields Eye Hospital, London, UK.
Treatment of infectious posterior uveitis represents a therapeutic challenge for ophthalmologists. The eye is a privileged site, maintained by blood ocular barriers, which limits penetration of systemic antimicrobials into the posterior segment. In addition, topical and subconjunctival therapies are incapable of producing sufficient drug concentrations, intraocularly. Read More
Arch Soc Esp Oftalmol 2018 Nov 28. Epub 2018 Nov 28.
Servicio de Oftalmología, Hospital General Universitario de Valencia, Valencia, España.
J Ophthalmic Inflamm Infect 2018 Dec 4;8(1):22. Epub 2018 Dec 4.
Dr Ram Manohar Lohia Hospital and Post Graduate Institute of Medical Education and Research, Baba Kharak Singh Marg, New Delhi, 110001, India.
Background: Syphilitic uveitis is an infective uveitis and a great mimicker. Misdiagnosis can lead to delay in the specific treatment resulting in deterioration of uveitis and loss of vision.
Findings: A 38-year-old unmarried female presented with pain, redness, and blurring of vision in the left eye for the last 5 days. Read More
Genetics 2018 Dec 4. Epub 2018 Dec 4.
University of Toronto
G protein-coupled receptors (GPCRs) are crucial sensors of extracellular signals in eukaryotes, with multiple GPCR mutations linked to human diseases. With the growing number of sequenced human genomes, determining the pathogenicity of a mutation is challenging, but can be aided by a direct measurement of GPCR-mediated signaling. This is particularly difficult for the visual pigment rhodopsin, a GPCR activated by light, for which hundreds of mutations have been linked to inherited degenerative retinal diseases such as retinitis pigmentosa (RP). Read More
Am J Med Genet A 2018 Dec 4. Epub 2018 Dec 4.
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and delayed responses on electro-retinography (ERG) and eventual loss of central vision. Read More
Hum Gene Ther 2018 Nov 30. Epub 2018 Nov 30.
Shiley Eye Institute, Ophthalmology, University of California, San Diego, United States ;
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial (RPE) atrophy, variable degrees of foveal edema and optic disc drusen. The disease phenotype is variable however, with some patients maintaining good central vision and cone function till late in the disease. Read More
Dis Model Mech 2018 Nov 26. Epub 2018 Nov 26.
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK
Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, a β and a γ subunit. Loss of function and missense mutations in both and have previously been implicated in families exhibiting retinal degeneration. Read More
F1000Res 2018 28;7:1568. Epub 2018 Sep 28.
Division of Infectious disease, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Cytomegalovirus (CMV) is an important cause of infectious complications after kidney transplantation (KT), especially among patients receiving antithymocyte globulin (ATG). CMV infection can result in organ dysfunction and indirect effects such as graft rejection, graft failure, and opportunistic infections Prevention of CMV reactivation includes pre-emptive or prophylactic approaches. Access to valganciclovir prophylaxis is limited by high cost. Read More
J Fr Ophtalmol 2018 Nov 22. Epub 2018 Nov 22.
Centre for Clinical Research, Croix-Rousse Hospital, Hospices Civils de Lyon, 69004 Lyon, France.
Introduction: The goal of this study was to measure by spectral domain optical coherence tomography (SD-OCT) with EDI the choroidal thickness in healthy subjects and to compare these parameters with those of patients with retinitis pigmentosa (RP).
Methods: Data were obtained from 60 healthy patients without history or family history of retinal or choroidal disease or glaucoma. A case-control study was also conducted on 40 eyes of 20 patients with RP and 40 eyes of 20 healthy refraction- and age-matched controls, selected from among the 60 healthy patients. Read More
Stem Cell Res 2018 Nov 16;33:251-254. Epub 2018 Nov 16.
Department of Regeneration and Cell Therapy, Andalusian Molecular Biology and Regenerative Medicine Centre-CABIMER (Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide), Seville, Spain. Electronic address:
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a heterozygous double mutation in EYS gene was generated by non-integrative reprogramming technology, using hOCT3/4, hSOX2, hc-MYC and hKLF4 reprogramming factors. Read More
Biochem Soc Trans 2018 Nov 21. Epub 2018 Nov 21.
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, U.K.
Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. Central to disease pathogenesis is the progressive loss of retinal photoreceptors. Read More
FASEB J 2018 Nov 21:fj201801662R. Epub 2018 Nov 21.
Department of Pharmacology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
Retinitis pigmentosa is a devastating, blinding disorder that affects 1 in 4000 people worldwide. During the progression of the disorder, phagocytic clearance of dead photoreceptor cell bodies has a protective role by preventing additional retinal damage from accumulation of cellular debris. However, the cells responsible for the clearance remain unidentified. Read More
Genes Genomics 2018 Nov 20. Epub 2018 Nov 20.
Department of Medical Genetics, West China Medical School, West China Hospital, Sichuan University, 1st Keyuan 4 Lu, GaoPeng Da Dao, Chengdu, 610041, Sichuan, China.
Background: Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis.
Objective: To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations. Read More
Open Forum Infect Dis 2018 Nov 17;5(11):ofy259. Epub 2018 Oct 17.
Palo Alto Medical Foundation Toxoplasma Serology Laboratory, National Reference Center for the Study and Diagnosis of Toxoplasmosis, Palo Alto, California.
We report the case of a 65-year-old patient with pseudolymphoma who developed acute toxoplasmosis following 6 cycles of rituximab and bendamustine therapy. Acute toxoplasmosis in the setting of biological response modifiers, rather than reactivation, is a unique unreported infection. The patient developed severe disease with multi-organ involvement, including retinitis, myocarditis, and myositis. Read More
Sci Rep 2018 Nov 20;8(1):17113. Epub 2018 Nov 20.
Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.
Usher syndrome is a rare disorder causing retinitis pigmentosa, together with sensorineural hearing loss. Due to the phenotypic and genetic heterogeneity of this disease, the best method to screen the causative mutations is by high-throughput sequencing. In this study, we tested a semiconductor chip based sequencing approach with 77 unrelated patients, as a molecular diagnosis routine. Read More
J Vis 2018 Nov;18(12):10
Visual Processing Lab, Ophthalmic Department, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany.
Retinitis pigmentosa (RP) is an inherited disease that causes progressive peripheral visual-field loss. In this study, we investigated how such loss affects visual exploration of natural images. Individuals with varying degrees of visual-field loss and healthy control participants freely observed images of different sizes while eye movements were recorded. Read More
Graefes Arch Clin Exp Ophthalmol 2018 Nov 19. Epub 2018 Nov 19.
Faculdade de Medicina Universidade do Porto, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Portugal.
Purpose: To evaluate the integrity of the outer retinal layers-outer nuclear layer (ONL), external limiting membrane (ELM), ellipsoid (EZ), and interdigitation band (IZ)-using spectral-domain optical coherence tomography and estimate their effect on visual acuity in retinitis pigmentosa (RP).
Methods: A cross-sectional study was performed in the Ophthalmology Department of Hospital de Braga, Portugal. Patients with RP followed in the Hospital de Braga during January to August 2017 were included. Read More
Stem Cell Res 2018 Nov 10;33:228-232. Epub 2018 Nov 10.
Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address:
We generated an induced pluripotent stem cell (iPSC) line from a patient with non-syndromic retinitis pigmentosa who is a compound heterozygote for the two most frequent USH2A variants, c.2276G > T and c.2299delG localized in exon 13. Read More
Invest Ophthalmol Vis Sci 2018 Nov;59(13):5417-5430
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, United States.
Purpose: The I307N rhodopsin (Rho) mouse is a light-inducible model of autosomal dominant retinitis pigmentosa (adRP) that may be useful in testing therapies. We investigated the time-course of retinal changes of the I307N Rho mouse with spectral-domain optical coherence tomography (SD-OCT).
Methods: SD-OCT was performed up to day 30 after light damage; electroretinography (ERG) was employed to evaluate photoreceptor function. Read More
Sci Rep 2018 Nov 19;8(1):16998. Epub 2018 Nov 19.
Centre for Ophthalmology, Institute for Ophthalmic Research University of Tübingen, Elfriede-Aulhorn-Str. 5-7, D-72076, Tübingen, Germany.
Electrical (e-) stimulation is explored in schemes to rescue the vision of blind people, e.g. those affected by Retinitis Pigmentosa (RP). Read More
Optom Vis Sci 2018 Dec;95(12):1155-1161
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Significance: Retinitis pigmentosa (RP) is a severe hereditary retinal disorder characterized by progressive degeneration of rod and cone photoreceptors. This study identified a novel frameshift mutation, c.385delC, p. Read More
Indian J Ophthalmol 2018 Dec;66(12):1874-1876
Smt. Kanuri Santhamma Center for Vitreoretinal Diseases, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Posterior polar annual choroidal dystrophy is a rare disease which affects the retina and choroid in an annular pattern. Our patient was referred to us a case of atypical retinitis pigmentosa. Fundus examination showed a normal optic disc, normal arterioles, and no bone spicules. Read More
Indian J Ophthalmol 2018 Dec;66(12):1844
Department of Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Visakhapatnam, Andhra Pradesh, India.
Indian J Ophthalmol 2018 Dec;66(12):1840-1844
Resident, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Salem, Tamil Nadu, India.
Purpose: Among the major groups of rickettsiosis, the commonly reported diseases in India are: (a) Typhus group induced-scrub typhus, murine flea-borne typhus; (b) Spotted fever group induced-Indian tick typhus; and (c) Q fever. Though many scrub typhus outbreaks have been reported from India, only one outbreak of spotted fever-serologically proven Indian tick typhus (Rickettsia conorii)-has been reported. We report for the first time ocular manifestations of serologically proven R. Read More
Doc Ophthalmol 2018 Nov 16. Epub 2018 Nov 16.
Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.
Purpose: Mutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound heterozygous CLN3 mutations.
Methods: A 50-year-old female with non-syndromic retinal dystrophy from the age of 36 years underwent multimodal retinal imaging, electroretinography, neuroimaging, immunological studies and genetic testing. Read More
Prog Retin Eye Res 2018 Nov 13. Epub 2018 Nov 13.
CRTD/Center for Regenerative Therapies Dresden, Center for Molecular and Cellular Bioengineering (CMCB), Technische Universität Dresden, Fetscherstraße 105, 01307, Dresden, Germany. Electronic address:
The mammalian retina displays no intrinsic regenerative capacities, therefore retinal degenerative diseases such as age-related macular degeneration (AMD) or retinitis pigmentosa (RP) result in a permanent loss of the light-sensing photoreceptor cells. The degeneration of photoreceptors leads to vision impairment and, in later stages, complete blindness. Several therapeutic strategies have been developed to slow down or prevent further retinal degeneration, however a definitive cure i. Read More
Ophthalmic Genet 2018 Dec 16;39(6):735-740. Epub 2018 Nov 16.
a Department of Pediatric Ophthalmology, Strabismus, and Adult Motility , Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center , Pittsburgh , Pennsylvania , USA.
Background: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features.
Materials And Methods: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed. Read More
Cell Death Dis 2018 Nov 15;9(12):1141. Epub 2018 Nov 15.
School of Optometry, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited disorders caused by mutations in genes that are mostly expressed by rod photoreceptors, which results in initial death of rods followed by cone photoreceptors. The molecular mechanisms that lead to both rod and cone degeneration are not yet fully understood. The mTOR pathway is implicated in RP. Read More
Jpn J Ophthalmol 2018 Nov 13. Epub 2018 Nov 13.
Department of Pharmacoepidemiology, Graduate School of Medicine and Public Health, Kyoto University, Yoshidakonoe-cho, Sakyo-ku, Kyoto, 606-8501, Japan.
Purpose: To describe relevant patient demographic characteristics and investigate the influence of known risk factors for late intraocular lens (IOL) dislocation. To explore the associations between these risk factors and the incidence of recurrent IOL dislocation.
Study Design: Retrospective cohort study. Read More
Prog Retin Eye Res 2018 Nov 9. Epub 2018 Nov 9.
Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Hyogo, 650-0047, Japan.
Cell replacement therapy is a promising treatment for irreversible retinal cell death in diverse diseases, such as age-related macular degeneration (AMD), Stargardt's disease, retinitis pigmentosa (RP) and glaucoma. These diseases are all characterized by the degeneration of one or two retinal cell types that cannot regenerate spontaneously in humans. Aberrant retinal pigment epithelial (RPE) cells can be observed through optical coherence tomography (OCT) in AMD patients. Read More
Mol Vis 2018 18;24:667-678. Epub 2018 Oct 18.
Medical Biosciences/Medical and Clinical Genetics, University of Umeå, Umeå, Sweden.
Purpose: Retinitis pigmentosa (RP) represents a large group of inherited retinal diseases characterized by clinical and genetic heterogeneity. Among patients with RP in northern Sweden, we identified two severely affected siblings and aimed to reveal a genetic cause underlying their disease.
Methods: Whole exome sequencing (WES) was performed on both affected individuals. Read More
Biochim Biophys Acta Bioenerg 2019 Jan 7;1860(1):52-59. Epub 2018 Nov 7.
Institut de Biochimie et Génétique Cellulaires, CNRS-Bordeaux University (UMR5095), 1 Rue Camille Saint-Saëns, Bordeaux 33077 cedex, France.. Electronic address:
Protons are transported from the mitochondrial matrix to the intermembrane space of mitochondria during the transfer of electrons to oxygen and shuttled back to the matrix by the a subunit and a ring of identical c subunits across the membrane domain (F) of ATP synthase, which is coupled to ATP synthesis. A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aLR) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. Read More
Sci Rep 2018 Nov 9;8(1):16638. Epub 2018 Nov 9.
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy.
The discovery of thousands of non-coding RNAs has revolutionized molecular biology, being implicated in several biological processes and diseases. To clarify oxidative stress role on Retinitis pigmentosa, a very heterogeneous and inherited ocular disorder group characterized by progressive retinal degeneration, we realized a comparative transcriptome analysis of human retinal pigment epithelium cells, comparing two groups, one treated with oxLDL and one untreated, in four time points (1 h, 2 h, 4 h, 6 h). Data analysis foresaw a complex pipeline, starting from CLC Genomics Workbench, STAR and TopHat2/TopHat-Fusion alignment comparisons, followed by transcriptomes assembly and expression quantification. Read More
BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
A young female suffering from chronic kidney disease presented with retinal features suggestive of retinitis pigmentosa (RP). Cystoid intraretinal changes were noted at the macula in both eyes on optical coherence tomography. Careful clinical examination and fluorescein angiography revealed disc oedema, macular hard exudates and flower petal leakage in both eyes. Read More
BMC Cancer 2018 Nov 8;18(1):1080. Epub 2018 Nov 8.
Department of Infectious Diseases, Chonnam National University Medical School, 42, Jebong Ro, Donggu, Gwangju, 61469, Korea.
Background: The incidence of AIDS-defining cancers (ADCs) has decreased markedly in the era of highly active antiretroviral therapy (HAART). The occurrence of two ADCs is rare in people living with HIV or AIDS (PWHA) who are severely immunosuppressed or have incomplete virologic suppression.
Case Presentation: We report a case of dual primary ADCs, especially NHL followed by KS, in a 70-year-old HIV-infected man who was on antiretroviral therapy and had successful virologic suppression. Read More
Transl Vis Sci Technol 2018 Sep 31;7(5):33. Epub 2018 Oct 31.
Department of Biomedical Engineering, The University of Michigan, Ann Arbor, MI, USA.
Purpose: Electronic retinal prostheses restore vision in people with outer retinal degeneration by electrically stimulating the inner retina. We characterized visual cortex electrophysiologic response elicited by electrical stimulation of retina in normally sighted and retinal degenerate rats.
Methods: Nine normally sighted Long Evans and 11 S334ter line 3 retinal degenerate () rats were used to map cortical responses elicited by epiretinal electrical stimulation in four quadrants of the retina. Read More
J Neurosci 2018 Nov 5. Epub 2018 Nov 5.
Department of Anatomy and Neurobiology, School of Medicine, University of California, Irvine
To combat retinal degeneration, healthy fetal retinal sheets have been successfully transplanted into both rodent models and humans, with synaptic connectivity between transplant and degenerated host retina having been confirmed. In rodent studies transplants have been shown to restore responses to flashes of light in a region of the superior colliculus corresponding to the location of the transplant in the host retina. To determine the quality and detail of visual information provided by the transplant, visual responsivity was studied here at the level of visual cortex where higher visual perception is processed. Read More
Ocul Immunol Inflamm 2018 Nov 5:1-7. Epub 2018 Nov 5.
a Advanced Eye Centre, Department of Ophthalmology , Post Graduate Institute of Medical Education and Research , Chandigarh , India.
Purpose: To characterize the presenting features of cytomegalovirus (CMV) retinitis in HIV-positive patients in a developing country in the HAART era.
Methods: Retrospective chart review of all patients with CMV retinitis seen at a tertiary-care referral center between January 2006 to June 2017. Demographic and clinical data were collected to study the presenting features and risk factors for blindness. Read More
Ophthalmic Surg Lasers Imaging Retina 2018 Oct;49(10):e122-e128
Background And Objective: To characterize the choriocapillaris (CC) vasculature in patients with retinitis pigmentosa (RP) and healthy controls using optical coherence tomography angiography (OCTA).
Patients And Methods: The CC of patients with RP and controls was analyzed using OCTA. Areas of no-flow, termed flow voids (FVs), were denoted in both. Read More
Eur J Ophthalmol 2018 Nov 5:1120672118809579. Epub 2018 Nov 5.
3 Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
Purpose:: To report a case of Evans syndrome with a vascular occlusive event leading to severe loss of vision.
Case Report:: A 12-year-old boy with Evans syndrome presented with painless acute loss of vision in the left eye during a period of remission from the disease. Examination showed visual acuity of hand motion in the left eye, left relative afferent pupillary defect, pale optic nerve head, and attenuated vessels. Read More
Eye (Lond) 2018 Nov 2. Epub 2018 Nov 2.
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
Background: Sector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants of the retina are involved. The objectives of this study were to report the results of a molecular screening of five unrelated Chinese patients with sector RP and describe the clinical features observed in patients with RHO mutations.
Methods: Five probands that were clinically diagnosed with sector RP were recruited for genetic analysis. Read More
Hum Genet 2018 Nov 1. Epub 2018 Nov 1.
Department of Biological and Medical Sciences, Oxford Brookes University, Gipsy Lane, Oxford, OX3 0BP, UK.
The fruit fly Drosophila melanogaster has served as an excellent model to study and understand the genetics of many human diseases from cancer to neurodegeneration. Studying the regulation of growth, determination and differentiation of the compound eyes of this fly, in particular, have provided key insights into a wide range of diseases. Here we review the regulation of the development of fly eyes in light of shared aspects with human eye development. Read More
Genet Med 2018 Oct 31. Epub 2018 Oct 31.
Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
Purpose: RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease.
Methods: Exome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members. Read More
Sci Rep 2018 Oct 29;8(1):15939. Epub 2018 Oct 29.
Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these patients, 559 had undergone at least one genetic test. Read More
Int J Ophthalmol 2018 18;11(10):1721-1725. Epub 2018 Oct 18.
Department of Neuro-ophthalmology and Medical Retinal, Tianjin Medical University Eye Hospital, Tianjin 300384, China.
Int J Ophthalmol 2018 18;11(10):1638-1642. Epub 2018 Oct 18.
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei 11217, Taiwan, China.
Aim: To compare the effectiveness between multiple intravitreal injections of ganciclovir alone and combined with foscarnet as initial treatment for patients with newly-onset cytomegalovirus retinitis (CMVR).
Methods: The retrospective study observed 37 patients (58 eyes) who suffered from CMVR onset between 2013 and 2015. Among them, 35 eyes underwent 4 weekly intravitreal injections of 3. Read More
Curr Mol Med 2018 ;18(5):287-294
Department of Ophthalmology of Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China.
Background: To screen variants in pre-mRNA Splicing genes in 95 Chinese autosomal dominant retinitis pigmentosa (adRP) families.
Methods: Clinical examination and pedigree analysis were performed. Targeted exome sequencing (TES) and / or Sanger sequencing were performed to detect the variants in genes of Splicing factors and conduct intra-familiar segregation analysis with DNA available. Read More
Pharmaceuticals (Basel) 2018 Oct 22;11(4). Epub 2018 Oct 22.
F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, 305 Stellar-Chance Laboratory, Philadelphia, PA 19104, USA.
Iron is essential for life, while excess iron can be toxic. Iron generates hydroxyl radical, which is the most reactive free radical, causing oxidative stress. Since iron is absorbed through the diet but not excreted from the body, it accumulates with age in tissues, including the retina, consequently leading to age-related toxicity. Read More
Stem Cell Res Ther 2018 Oct 25;9(1):279. Epub 2018 Oct 25.
Research Institute, National Rehabilitation Center for Persons with Disabilities, 4-1 Namiki, Tokorozawa, 359-8555, Japan.
Background: Generation of induced photoreceptors holds promise for in vitro modeling of intractable retinal diseases. Retinitis pigmentosa is an inherited retinal dystrophy that leads to visual impairment. The EYS gene was reported to be the most common gene responsible for autosomal recessive retinitis pigmentosa (arRP). Read More