18,903 results match your criteria Neuroretinitis Diffuse Unilateral Subacute


Immune cells in the retina and choroid: Two different tissue environments that require different defenses and surveillance.

Prog Retin Eye Res 2018 Dec 12. Epub 2018 Dec 12.

Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.

In the eye immune defenses must take place in a plethora of differing microenvironments ranging from the corneal and conjunctival epithelia facing the external environment to the pigmented connective tissue of the uveal tract containing smooth muscle, blood vessels and peripheral nerves to the innermost and highly protected neural retina. The extravascular environment of the neural retina, like the brain parenchyma, is stringently controlled to maintain conditions required for neural transmission. The unique physiological nature of the neural retina can be attributed to the blood retinal barriers (BRB) of the retinal vasculature and the retinal pigment epithelium, which both tightly regulate the transport of small molecules and restrict passage of cells and macromolecules from the circulation into the retina in a similar fashion to the blood brain barrier (BBB). Read More

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December 2018

Progression of retinitis pigmentosa on multimodal imaging: the PREP-1 study.

Clin Exp Ophthalmol 2018 Dec 15. Epub 2018 Dec 15.

The Wilmer Eye Institute, Johns Hopkins University School of Medicine, USA.

Importance: It is important to establish reliable outcome measures to detect progression in retinitis pigmentosa (RP).

Background: To evaluate progression of RP using multimodal imaging, including spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) and microperimetry (MP).

Design: Retrospective longitudinal study at a tertiary teaching hospital. Read More

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December 2018
1.953 Impact Factor

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

PLoS One 2018 13;13(12):e0207958. Epub 2018 Dec 13.

Department of Ophthalmology, University of Bonn, Bonn, Germany.

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the enormous genetic heterogeneity of diverse retinal dystrophies, including RP. To identify disease-causing mutations in unselected, consecutive RP patients, we conducted Sanger sequencing of genes commonly involved in the suspected genetic RP subtype, followed by targeted large-panel NGS if no mutation was identified, or NGS as primary analysis. Read More

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December 2018

Complex Structural Variant Associated with Non-syndromic Canine Retinal Degeneration.

G3 (Bethesda) 2018 Dec 12. Epub 2018 Dec 12.

University of Pennsylvania.

Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. In man, many rod and rod-cone degenerative diseases are classified as forms of retinitis pigmentosa (RP). Read More

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December 2018
1 Read

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.

Int Med Case Rep J 2018 20;11:339-344. Epub 2018 Nov 20.

Department of Ophthalmology, Federal Health Sciences University of Porto Alegre, Porto Alegre, Brazil,

Objective: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.

Methods: Case report. Retrospective data analysis. Read More

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November 2018
1 Read

Posterior staphyloma in pathologic myopia.

Prog Retin Eye Res 2018 Dec 8. Epub 2018 Dec 8.

Department of Ophthalmology, Medical Faculty Mannheim, Ruprecht-Karls-University of Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. Electronic address:

A posterior staphyloma is an outpouching of a circumscribed region of the posterior fundus and has been considered a hallmark of pathologic myopia. Occurring in highly myopic eyes, it is histologically characterized by a relatively abrupt scleral thinning starting at the staphyloma edge, a pronounced de-arrangement of scleral collagen fibrils and a marked choroidal thinning, which is the most marked at the staphyloma edge and which occurs in addition to the axial elongation-associated choroidal thinning. Besides in highly myopic eyes, a posterior staphyloma can be found in non-highly myopic eyes in association with retinitis pigmentosa or localized defects of Bruch's membrane in the cases of which it is not associated with a marked choroidal thinning. Read More

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December 2018
2 Reads

The Prohormone Proinsulin as a Neuroprotective Factor: Past History and Future Prospects.

Front Mol Neurosci 2018 26;11:426. Epub 2018 Nov 26.

3D Lab, Development, Differentiation and Degeneration, Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CIB/CSIC), Madrid, Spain.

Proinsulin was first identified as the primary translation product of the insulin gene in Donald Steiner's laboratory in 1967, and was the first prohormone to be isolated and sequenced. While its role as an insulin precursor has been extensively studied in the field of endocrinology, the bioactivity of the proinsulin molecule itself has received much less attention. Insulin binds to isoforms A and B of the insulin receptor (IR) with high affinity. Read More

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November 2018

Genetics of Usher Syndrome: New Insights From a Meta-analysis.

Otol Neurotol 2019 Jan;40(1):121-129

Department of Genetics.

Objective: To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date classification of Usher genes in patients with both visual and hearing impairments suggesting Usher syndrome, and in patients with seemingly isolated deafness.

Study Design: The systematic review and meta-analysis protocol was based on Cochrane and Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We performed 1) a meta-analysis of data from 11 next-generation sequencing studies in 684 patients with Usher syndrome; 2) a meta-analysis of data from 21 next-generation studies in 2,476 patients with seemingly isolated deafness, to assess the involvement of Usher genes in seemingly nonsyndromic hearing loss, and thus the proportion of patients at high risk of subsequent retinitis pigmentosa (RP); 3) a statistical analysis of differences between parts 1) and 2). Read More

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January 2019

Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations.

BMC Ophthalmol 2018 Dec 7;18(1):313. Epub 2018 Dec 7.

Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, 48150, USA.

Background: Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been attributed to deficits in contrast sensitivity (CS). The purpose of our study was to evaluate the CS in patients with clinical and genetic diagnosis of inherited retinal degeneration (IRD) and relatively preserved visual acuity. Read More

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December 2018

Initial intravitreal injection of high-dose ganciclovir for cytomegalovirus retinitis in HIV-negative patients.

BMC Ophthalmol 2018 Dec 10;18(1):314. Epub 2018 Dec 10.

Shanghai Aier Eye Hospital, Shanghai, China, No. 1286, Hongqiao Road, Changning District, Shanghai, 200050, China.

Background: The purpose of this study is to examine the clinical outcomes achieved by using initial high-dose intravitreal ganciclovir injections to treat cytomegalovirus retinitis in patients without human immunodeficiency virus (HIV) infection.

Methods: Twenty-four eyes (24 patients) with cytomegalovirus retinitis received multiple intravitreal injections of ganciclovir in weekly intervals. A higher dose (6 mg) of ganciclovir was applied at the first intravitreal injection, and a lower dose was used for maintenance. Read More

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December 2018

Correlation of Optical Coherence Tomography and Retinal Histology in Normal and Pro23His Retinal Degeneration Pig.

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

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November 2018
3 Reads

A Review of Antimicrobial Therapy for Infectious Uveitis of the Posterior Segment.

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

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January 2018
2 Reads

Spectral domain optical coherence tomography for monitoring candida retinitis.

Arch Soc Esp Oftalmol 2018 Nov 28. Epub 2018 Nov 28.

Servicio de Oftalmología, Hospital General Universitario de Valencia, Valencia, España.

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November 2018

Syphilitic uveitis misdiagnosed as viral retinitis-a misleading history.

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

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December 2018
5 Reads

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

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

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December 2018
1 Read

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

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

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December 2018
4 Reads

The long-term effects of gene therapy in a novel mouse model of human MFRP-associated retinopathy.

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

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November 2018

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

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

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November 2018
3 Reads

Burden of cytomegalovirus reactivation post kidney transplant with antithymocyte globulin use in Thailand: A retrospective cohort study.

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

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September 2018
4 Reads

Choroidal thickness in healthy eyes using enhanced depth imaging optical coherence tomography and comparison with cases of retinitis pigmentosa.

Authors:
I Aknin P Pradat

J Fr Ophtalmol 2018 Dec 23;41(10):933-938. Epub 2018 Nov 23.

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

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December 2018
1 Read

Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation.

Stem Cell Res 2018 Dec 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

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December 2018
1 Read

Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa.

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

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November 2018
2 Reads

Müller glia phagocytose dead photoreceptor cells in a mouse model of retinal degenerative disease.

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

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November 2018
4 Reads

A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations.

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

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November 2018

Acute Dissemination With Encephalitis in the Era of Biological Therapies.

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

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November 2018
1 Read

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

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

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November 2018
3 Reads

Natural visual behavior in individuals with peripheral visual-field loss.

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

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November 2018
4 Reads

Outer retinal layers as predictors of visual acuity in retinitis pigmentosa: a cross-sectional study.

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

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November 2018

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.

Stem Cell Res 2018 Dec 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

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December 2018
2 Reads

Clinically Relevant Outcome Measures for the I307N Rhodopsin Mouse: A Model of Inducible Autosomal Dominant Retinitis Pigmentosa.

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

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November 2018
1 Read
3.404 Impact Factor

Electrical activation of degenerated photoreceptors in blind mouse retina elicited network-mediated responses in different types of ganglion cells.

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

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November 2018

Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.

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

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December 2018
2 Reads

Posterior polar annular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case.

Authors:
Raja Narayanan

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

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December 2018
5 Reads

Commentary: Post fever retinitis and vasculitis: A morphological conundrum.

Authors:
Bhavik Panchal

Indian J Ophthalmol 2018 Dec;66(12):1844

Department of Vitreoretina and Uveitis Services, L V Prasad Eye Institute, Visakhapatnam, Andhra Pradesh, India.

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December 2018
1 Read

Ocular manifestations of in South 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

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December 2018
4 Reads

Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).

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

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November 2018
2 Reads

Transplantation of photoreceptors into the degenerative retina: Current state and future perspectives.

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

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November 2018
2 Reads

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

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

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December 2018
13 Reads

Ribosomal protein S6 kinase 1 promotes the survival of photoreceptors in retinitis pigmentosa.

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

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November 2018

Current status of late and recurrent intraocular lens dislocation: analysis of real-world data in Japan.

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

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November 2018
5 Reads

Stemming retinal regeneration with pluripotent stem cells.

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

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November 2018
6 Reads

Idiopathic Retinal Vasculitis, Aneurysms, and Neuroretinitis (IRVAN) in a Patient Without IRVAN History.

JAMA Ophthalmol 2018 Nov 8. Epub 2018 Nov 8.

LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York.

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November 2018
3 Reads

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa.

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

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October 2018

Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176 T>G mutation.

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

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January 2019
5 Reads

Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis.

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

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November 2018
3 Reads

Double trouble: exudative hypertensive retinopathy in a patient with retinitis pigmentosa.

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

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November 2018

Case report: dual primary AIDS-defining cancers in an HIV-infected patient receiving antiretroviral therapy: Burkitt's lymphoma and Kaposi's sarcoma.

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

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November 2018
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Neuroretinitis Associated with Raw Meat Consumption.

Turk J Ophthalmol 2018 Oct 31;48(5):258-261. Epub 2018 Oct 31.

Ege University Faculty of Medicine, Department of Ophthalmology, İzmir, Turkey.

Neuroretinitis characterized by optic disc edema and star-like exudates in the macula was detected in a patient who presented with sudden unilateral painless vision loss and had a history of raw meat consumption. The patient tested seropositive for . Combination therapy with steroid and albendazole resulted in an increase in visual acuity and complete resolution of clinical signs. Read More

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October 2018

Retinotopic Responses in the Visual Cortex Elicited by Epiretinal Electrical Stimulation in Normal and Retinal Degenerate Rats.

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

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September 2018

Detailed Visual Cortical Responses Generated by Retinal Sheet Transplants in Rats with Severe Retinal Degeneration.

J Neurosci 2018 Dec 5;38(50):10709-10724. Epub 2018 Nov 5.

Department of Anatomy and Neurobiology, School of Medicine, University of California-Irvine, Irvine, California 92697-1275,

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

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December 2018
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