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Ocular dominance

Jacque P K Ip, Ikue Nagakura, Jeremy Petravicz, Keji Li, Erik A C Wiemer, Mriganka Sur
Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. Although this region contains exons of 29 genes, disrupting only a small segment of the region, which spans 5 genes, is sufficient to cause autistic traits. One candidate gene in this critical segment is MVP , which encodes for the major vault protein (MVP) that has been implicated in regulation of cellular transport mechanisms. MVP expression levels in MVP +/- mice closely phenocopy those of 16p11.2 mutant mice, suggesting that MVP +/- mice may serve as a model of MVP function in 16p11...
March 14, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
David Reichstein, Kayla Karan
PURPOSE OF REVIEW: Plaque brachytherapy remains the dominant globe-sparing therapy of uveal melanoma. This report highlights recent advances, which have expanded plaque brachytherapy's uses as well as improved the surgical technique. RECENT FINDINGS: Plaque brachytherapy is effective for tumors that may previously have demanded enucleation. Plaque brachytherapy can be used to control large melanomas as well as melanomas touching the optic nerve. Improvements in planning and design have made plaque therapy simpler for the surgical operator and may reduce collateral radiation damage to normal ocular structures...
March 13, 2018: Current Opinion in Ophthalmology
Daniela Aneta Starosta, Birgit Lorenz
BACKGROUND: Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign tumors of the central and peripheral nervous system including astrocytomas, ependymomas, meningeomas, and schwannomas, among which bilateral vestibular schwannomas are the most frequent. Among ocular manifestations of NF2, juvenile subcapsular cataract is the most common followed by epiretinal membranes and combined hamartomas of the retina and retinal pigment epithelium...
March 2018: Klinische Monatsblätter Für Augenheilkunde
Yuval Barkan, Hedva Spitzer
The human visual system faces many challenges, among them the need to overcome the imperfections of its optics, which degrade the retinal image. One of the most dominant limitations is longitudinal chromatic aberration (LCA), which causes short wavelengths (blue light) to be focused in front of the retina with consequent blurring of the retinal chromatic image. The perceived visual appearance, however, does not display such chromatic distortions. The intriguing question, therefore, is how the perceived visual appearance of a sharp and clear chromatic image is achieved despite the imperfections of the ocular optics...
2018: Frontiers in Bioengineering and Biotechnology
S Georgin-Lavialle, I Kone-Paut, J Delaleu, G Sarrabay, G Grateau, I Touitou, V Hentgen
Tumour necrosis receptor associated periodic syndrome (TRAPS) is a rare cosmopolitan dominant autosomal disease that belongs to the group of recurrent autoinflammatory syndromes. TRAPS is characterized by recurrent bouts of fever lasting more than 7 days, with arthralgia, myalgia, abdominal pain, erythematous rash and sometimes ocular symptoms. During flares, raised inflammatory markers are constant. The age of onset may occur during childhood but also during adulthood. TRAPS is caused by mutations in the TNF receptor 1 (TNFRSF1A) gene that may occur in most of the populations over the world...
March 7, 2018: La Revue de Médecine Interne
Awy Chua, M J Chua, Pca Kam
Significant surgical advances have been made recently in corneal transplantation. Penetrating keratoplasty was the dominant method from 1905, until selective lamellar keratoplasty emerged as the preferred technique over the last 20 years. Advanced techniques such as corneal limbal stem cell transplant and keratoprosthesis are also available. The major surgical complications of corneal transplantation are extrusion of ocular content and expulsive choroidal haemorrhage. It is essential for an ophthalmic anaesthetist to have a good understanding of these new surgical procedures so as to provide optimal surgical conditions...
March 2018: Anaesthesia and Intensive Care
Kathryn E Hendee, Elena A Sorokina, Sanaa S Muheisen, Linda M Reis, Rebecca C Tyler, Vujica Markovic, Goran Cuturilo, Brian A Link, Elena V Semina
The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1 (ARS), an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes...
March 1, 2018: Human Molecular Genetics
F Rodrigues, V Hentgen, C Bachmeyer, I Kone-Paut, A Belot, G Grateau, G Sarrabay, S Georgin-Lavialle
The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation suggesting a cryopyrinopathy in its CINCA form; the mortality of this phenotype is high (25 %)...
February 26, 2018: La Revue de Médecine Interne
Fahed A Elian, Elizabeth Yan, Michael A Walter
In recent years, rapidly accumulating evidence implicates forkhead box C1 ( FOXC1 ) in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that FOXC1 is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The FOXC1 gene encodes a transcription factor that is crucial to mesodermal, neural crest, and ocular development, and mutations found in FOXC1 have been found to cause dominantly inherited Axenfeld-Rieger Syndrome (ARS)...
January 30, 2018: Oncotarget
Steven F Grieco, Todd C Holmes, Xiangmin Xu
Experience-dependent critical period plasticity has been extensively studied in the visual cortex. Monocular deprivation during the critical period affects ocular dominance, limits visual performance, and contributes to the pathological etiology of amblyopia. Neuregulin-1 (NRG1) signaling through its tyrosine kinase receptor ErbB4 is essential for the normal development of the nervous system, and has been linked to neuropsychiatric disorders such as schizophrenia. We discovered recently that NRG1/ErbB4 signaling in PV neurons is critical for the initiation of critical period visual cortical plasticity by controlling excitatory synaptic inputs onto PV neurons and thus PV-cell mediated cortical inhibition that occurs following visual deprivation...
February 21, 2018: Journal of Comparative Neurology
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p...
February 20, 2018: Human Genetics
Anna Wawrocka, Maciej R Krawczynski
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the PAX6 gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease...
February 19, 2018: Journal of Applied Genetics
Y Boujnah, R Mouchel, H El-Chehab, C Dot, C Burillon, V Kocaba
PURPOSE: To evaluate the efficacy, tolerability and treatment adherence of Ikervis ® (Santen, SAS) (ciclosporine 0.1 %) for first line therapy or following treatment with Restasis ® (Allergan, Inc.) (ciclosporine 0.05 %) for severe dry eye syndrome. MATERIAL AND METHODS: A prospective, monocentric, uncontrolled study was conducted between January 2012 and March 2015 on 110 eyes of 55 patients with severe dry eye on first line therapy or previously treated with Restasis ® who required the introduction of Ikervis ® ...
February 12, 2018: Journal Français D'ophtalmologie
Heiko Pult
PURPOSE: This study evaluated relationships between meibomian gland loss (MGL) and age, sex, and dry eye. METHODS: Dry eye and MGL of the lower eyelid was evaluated from 112 randomly selected subjects (66 women; mean age 62.8; SD ±15.7; and age range: 19-89 years) from Horst Riede GmbH, Weinheim, Germany. In addition, subjects were grouped into dry eye and non-dry eye by the Ocular Surface Disease Index (OSDI) score, lid-parallel conjunctival folds and non-invasive break-up time...
February 12, 2018: Eye & Contact Lens
Gabriele Sansevero, Laura Baroncelli, Manuela Scali, Alessandro Sale
Amblyopia is the most common cause of visual impairment in one eye, with a prevalence of 1-5% in the world population. While amblyopia can be efficiently treated in children, it becomes irreversible in adults, due to the decline in neural plasticity past the end of the visual cortex critical period. Accordingly, no pharmacological approaches are available to rescue visual functions in adult amblyopic subjects. We report that non-invasive intranasal infusion of BDNF increased levels of this neurotrophic factor in V1 and induced a recovery of visual acuity, ocular dominance and visual depth perception in adult amblyopic rats, both in reverse-occluded animals and in those with unrestricted binocular sight...
February 8, 2018: Neuropharmacology
Luca Rinaldi, Giovanni Bertolini, Christopher J Bockisch, Angelo Maravita, Luisa Girelli, Peter Brugger
Line bisection studies generally find a left-to-right shift in bisection bias with increasing distance between the observer and the target line, which may be explained by hemispheric differences in the processing of proximo-distal information. In the present study, the segregation between near and far space was further characterized across the motor system and contextual cues. To this aim, 20 right-handed participants were required to perform a manual bisection task of simple lines presented at three different distances (60, 90, 120 cm)...
February 8, 2018: Brain and Cognition
Arnulf H Koeppen
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a pathogenic translated cytosine-adenine-guanine (CAG) trinucleotide repeat expansion. Almost invariably, the substantia nigra and the dentate nucleus of the cerebellum bear the brunt of the disease, and these lesions account for the Parkinsonian and ataxic phenotypes. Lesions of motor nuclei in the brain stem cause the complex disturbance of ocular motility and weakness of the tongue...
2018: Advances in Experimental Medicine and Biology
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
BACKGROUND: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts and anterior segment mesenchymal disorders. MATERIALS AND METHODS: Targeted sequencing of 187 genes involved in ocular development was performed in 96 patients with mainly anophthalmia and microphthalmia. Additionally, Sanger sequencing analysis of PITX3 was performed on a second cohort of 32 index cases with congenital cataract and Peters anomaly and/or sclereocornea...
February 6, 2018: Ophthalmic Genetics
Christina Zeitz, Christoph Friedburg, Markus N Preising, Birgit Lorenz
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of non-progressive retinal disorder with largely normal fundus appearance. The mode of inheritance can be autosomal dominant (adCSNB), autosomal recessive (arCSNB) or X-chromosomal (XLCSNB). Additional ocular signs can be myopia, hyperopia, strabismus, nystagmus and reduced visual acuity. The Riggs and Schubert-Bornschein form of CSNB can be discriminated by electroretinography. While the Riggs form represents a dysfunction of the rods, a signal transmission defect from photoreceptors to bipolar cell is described in patients with the more frequently occurring Schubert-Bornschein form...
February 1, 2018: Klinische Monatsblätter Für Augenheilkunde
Felipe Mellado, Ignacia Fuentes, Francis Palisson, José I Vergara, Arturo Kantor
PURPOSE: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations. METHODS: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS)...
January 30, 2018: Cornea
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