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Retinal disease

Hashim Ali Khan, Muhammad Aamir Shahzad
PURPOSE: To report a case of atypical serpiginous choroiditis with previously unreported findings on optical coherence tomographic angiography. CASE REPORT: A 35-year-old otherwise healthy man had a 1-week history of vision loss in his right eye. The visual acuity in right eye was counting fingers at 1 meter. Fundoscopy showed a classic peripapillary serpiginous lesion and a solitary macular lesion. Fundus fluorescein angiography revealed early hypofluorescence of active lesions with gradual increase in fluorescence across the phase of angiogram...
October 25, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Yong Cheng, Xuan Shi, Jin-Feng Qu, Ming-Wei Zhao, Xiao-Xin Li
BACKGROUND: Polypoidal choroidal vasculopathy (PCV) is characterized by the presence of polyps with or without a branching vascular network and more prevalent among Asians. The aim of this study was to compare the outcomes of conbercept therapy between two different angiographic subtypes of PCV. METHODS: Fifty-eight patients of PCV were classified into two phenotypes according to indocyanine green angiography (ICGA). In Type 1, both feeder and draining vessels are visible on ICGA and network vessels are numerous...
2016: Chinese Medical Journal
Paula Castro, Shahid Zaman, Anthony Holland
People with Down's syndrome (DS) are at high risk for developing Alzheimer's disease (AD) at a relatively young age. This increased risk is not observed in people with intellectual disabilities for reasons other than DS and for this reason it is unlikely to be due to non-specific effects of having a neurodevelopmental disorder but, instead, a direct consequence of the genetics of DS (trisomy 21). Given the location of the amyloid precursor protein (APP) gene on chromosome 21, the amyloid cascade hypothesis is the dominant theory accounting for this risk, with other genetic and environmental factors modifying the age of onset and the course of the disease...
October 24, 2016: Journal of Neurology
Sara J Bowne, Lori S Sullivan, Dianna K Wheaton, Kirsten G Locke, Kaylie D Jones, Daniel C Koboldt, Robert S Fulton, Richard K Wilson, Susan H Blanton, David G Birch, Stephen P Daiger
PURPOSE: To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS: A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected spouses underwent whole exome sequencing (WES) and subsequently, custom capture of the linkage region followed by next-generation sequencing (NGS)...
2016: Molecular Vision
John D Hulleman, Joseph C Genereux, Annie Nguyen
Fibulin-3 (F3) is an important, disulfide-rich, extracellular matrix glycoprotein that has been associated with a number of diseases ranging from cancer to retinal degeneration. An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. The purpose of this study was to identify and validate novel intracellular interacting partners of wild-type (WT) and R345W F3 in retinal pigment epithelium cells. We used stable isotope labeling by amino acids in cell culture (SILAC) to generate 'heavy' and 'light' isotopically labeled ARPE-19 cell populations which were subsequently infected with adenovirus encoding for FLAG-tagged (FT) WT or R345W F3...
October 21, 2016: Experimental Eye Research
Md Akter Hussain, Alauddin Bhuiyan, Andrew Turpin, Chi D Luu, R Theodore Smith, Robyn H Guymer, Ramamohanarao Kotagiri
OBJECTIVE: We propose an effective, automatic method for identification of four retinal layer boundaries from the Spectral Domain Optical Coherence Tomography (SD-OCT) images in the presence and absence of pathologies and morphological changes due to disease. METHODS: The approach first finds an approximate location of three reference layers, and then uses these to bound the search space for the actual layers, which is achieved by modeling the problem as a graph and applying Dijkstra's shortest path algorithm...
October 19, 2016: IEEE Transactions on Bio-medical Engineering
Chunxia Peng, Wei Wang, Quangang Xu, Mo Yang, Huangfen Zhou, Shuo Zhao, Shihui Wei
PURPOSE: The aim of this study was to evaluate the differences between macular inner retinal layers and peripapillary retinal nerve fibre layer (pRNFL) thickness in Chinese patients with neuromyelitis spectrum optic neuritis (NMOSD-ON) and isolated optic neuritis (ION) with only one episode. METHODS: This cross-sectional study included 35 patients (35 eyes) with NMOSD-ON (NMO-IgG seropositive) and 46 patients (46 eyes) with ION after one episode. Spectral domain optical coherence tomography (SD-OCT) was used to quantify pRNFL, macular RNFL (mRNFL), ganglion cell and inner plexiform layers (GCIPL) and inner nuclear layer (INL) thickness using an automated algorithm...
October 24, 2016: Acta Ophthalmologica
Damjan Glavač, Martina Jarc-Vidmar, Katarina Vrabec, Metka Ravnik-Glavač, Ana Fakin, Marko Hawlina
PURPOSE: To determine the spectrum of BEST1 mutations and to study the phenotype in Slovenian families with Best vitelliform macular dystrophy (BVMD) to identify genotype-phenotype correlations. METHODS: Twenty patients from five families underwent the ophthalmological examination including electrooculogram (EOG; N = 17), fundus autofluorescence imaging (N = 16) and optical coherence tomography (N = 14). Mutational screening was performed by direct DNA sequencing of the BEST1 gene...
October 24, 2016: Acta Ophthalmologica
Lydia Sauer, Sven Peters, Johanna Schmidt, Dietrich Schweitzer, Matthias Klemm, Lisa Ramm, Regine Augsten, Martin Hammer
PURPOSE: To investigate the impact of macular pigment (MP) on fundus autofluorescence (FAF) lifetimes in vivo by characterizing full-thickness idiopathic macular holes (MH) and macular pseudo-holes (MPH). METHODS: A total of 37 patients with MH and 52 with MPH were included. Using the fluorescence lifetime imaging ophthalmoscope (FLIO), based on a Heidelberg Engineering Spectralis system, a 30° retinal field was investigated. FAF decays were detected in a short (498-560 nm; ch1) and long (560-720 nm; ch2) wavelength channel...
October 24, 2016: Acta Ophthalmologica
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
A Gargallo-Benedicto, M Cerdà-Ibáñez, Á Olate-Pérez, R Clemente-Tomás, I Almor Palacios, J M Hervás Hernandis, A Duch-Samper
CLINICAL CASE: An 8 year-old boy with no known diseases, with sudden loss of visual acuity (VA) in the left eye (LE). EXAMINATION: VA 1 in right eye, and 0.1 in LE, discrete left relative afferent pupil defect (RAPD). Normal biomicroscopy. Funduscopy: congestive papilla, venous tortuosity, peripapillary haemorrhages with macular oedema in LE. The systemic study only revealed A C46Tpolymorphism in the F12 coagulation gene. He had a VA of 1 and normal funduscopy 8 months later...
October 20, 2016: Archivos de la Sociedad Española de Oftalmología
Ewa Langwinska-Wosko, Marta Skowronska, Tomasz Kmiec, Anna Czlonkowska
BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an neurodegeneration with brain iron accumulation (NBIA) subtype with mutation of C19orf12. Optic atrophy is one of the core symptoms in almost all MPAN cases, but the detailed ophthalmologic features of MPAN patients have not yet been described. METHODS: All consecutive symptomatic, gene proven MPAN patients underwent a detailed ophthalmological examination: best corrected visual acuity (BCVA), slit lamp examination, dilated fundus examination, tonometry, optical coherent tomography (OCT) and electrophysiological examinations...
November 15, 2016: Journal of the Neurological Sciences
Michel van Lint, Kristien Hoornaert, Marcel P M Ten Tusscher
PURPOSE: Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described. METHODS: In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed. RESULTS: Molecular analysis revealed a missense mutation which has not been reported before...
November 15, 2016: Journal of the Neurological Sciences
Konstantin Huhn, Robert Lämmer, Hanna Zimmermann, Alexandra Lämmer, Anne Waschbisch, Kathrin Utz, René Markus Gieß, Friedemann Paul, Ralf A Linker, De-Hyung Lee
BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory disease of the CNS typically affecting younger adults and resulting in neuro-axonal degeneration already at early stages of the disease. Less is known about the effects of a later disease onset (LOMS, onset >50years of age). Analysis of retinal layers by optical coherence tomography (OCT) is a non-invasive method to investigate retinal and neuro-axonal degeneration. We applied OCT to detect differences in retinal damage depending on a later disease manifestation...
November 15, 2016: Journal of the Neurological Sciences
Isabel N Figueiredo, Susana Moura, Júlio S Neves, Luís Pinto, Sunil Kumar, Carlos M Oliveira, João D Ramos
In this work we propose a novel method for identifying individuals based on retinal fundus image matching. The method is based on the image registration of retina blood vessels, since it is known that the retina vasculature of an individual is a signature, i.e., a distinctive pattern of the individual. The proposed image registration consists of a multiscale affine registration followed by a multiscale elastic registration. The major advantage of this particular two-step image registration procedure is that it is able to account for both rigid and non-rigid deformations either inherent to the retina tissues or as a result of the imaging process itself...
September 26, 2016: Computers in Biology and Medicine
Abdulkadir Tunç, Belma Doğan Güngen, Ferhat Evliyaoğlu, Yeşim Güzey Aras, Aysel Kaya Tekeşin
The aim of this study was to investigate retinal nerve fiber layer (RNFL), ganglion cell layer (GCL) thickness, macular changes (central subfield thickness (CST), cube average thickness (CAT), cube volume (CV) in patients with migraine using spectral-domain optical coherence tomography (OCT) and to assess if there was any correlation with white matter lesions (WML). In this prospective case-control study, RNFL, GCL thickness and macular changes of 19 migraine patients with aura (MA), 41 migraine without aura (MO) and 60 age- and gender-matched healthy subjects were measured using OCT device...
October 21, 2016: Acta Neurologica Belgica
David F Woodward, Jenny W Wang, Ming Ni, Alex Bauer, Jose L Martos, Robert W Carling, Neil J Poloso
The purpose of these studies was to test the hypothesis that a selected polypharmacological approach for treating the prostanoid-mediated component of inflammatory diseases would produce a therapeutic effect superior to global inhibition of prostaglandin (PG) biosynthesis by aspirin-like drugs. The compound studied was AGN 211377, which had been previously shown to produce a superior effect on cytokine release from human macrophages compared with cyclooxygenase (COX) inhibitors. AGN 211377 antagonizes prostanoid prostaglandin D2 (DP)1, DP2, prostaglandin E2 (EP)1, EP4, prostaglandin F2α, and thromboxane A2 receptors but not anti-inflammatory EP2, prostaglandin I2, or EP3 receptors...
October 21, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Eli Kisilevsky, Luminita Tarita-Nistor, Esther G González, Mark S Mandelcorn, Michael H Brent, Samuel N Markowitz, Martin J Steinbach
OBJECTIVE: Patients with central vision loss develop preferred retinal loci (PRLs) in the eccentric retina. The characteristics of the PRLs for the better eye (BE) are well studied, but not those of the worse eye (WE). We examined the distribution of monocular PRLs in the visual field (VF), as well as visual acuity, fixation stability, and PRL eccentricity for the BE and WE of patients with central vision loss. DESIGN: Retrospective consecutive case series. PARTICIPANTS: A total of 87 BE and 50 WE of patients with central vision loss...
October 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Hassol Lim, Young-Mi Park, Jong-Keuk Lee, Hyun Taek Lim
OBJECTIVE: To present an efficient and successful application of a single-exome sequencing study in a family clinically diagnosed with X-linked retinitis pigmentosa. DESIGN: Exome sequencing study based on clinical examination data. PARTICIPANTS: An 8-year-old proband and his family. METHODS: The proband and his family members underwent comprehensive ophthalmologic examinations. Exome sequencing was undertaken in the proband using Agilent SureSelect Human All Exon Kit and Illumina HiSeq 2000 platform...
October 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Chong Chen, Kun Liu, Yupeng Xu, Pengwei Zhang, Yan Suo, Yi Lu, Wenyuan Zhang, Li Su, Qing Gu, Huamao Wang, Jianren Gu, Zonghai Li, Xun Xu
Anti-vascular endothelial growth factor (VEGF) therapies are widely used for the treatment of neovascular fundus diseases such as diabetic retinopathy. However, these agents need to be injected intravitreally, because their strong hydrophilicity and high molecular weight prevent them from penetrating cell membranes and complex tissue barriers. Moreover, the repeated injections that are required can cause infection and tissue injury. In this study, we used in vivo-directed evolution phage display technology to identify a novel dodecapeptide, named CC12, with the ability to penetrate the ocular barrier in a noninvasive (via conjunctival sac instillation) or minimally invasive (via retrobulbar injection) manner...
September 30, 2016: Biomaterials
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