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Congenitally blind

Caroline Paquet, Mark H Yudin
BACKGROUND: One of the major consequences of pregnant women becoming infected by Toxoplasma gondii is vertical transmission to the fetus. Although rare, congenital toxoplasmosis can cause severe neurological or ocular disease (leading to blindness), as well as cardiac and cerebral anomalies. Prenatal care must include education about prevention of toxoplasmosis. The low prevalence of the disease in the Canadian population and limitations in diagnosis and therapy limit the effectiveness of screening strategies...
August 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Emmanuelle Souzeau, Jennifer A Thompson, Terri L McLaren, John N De Roach, Christopher P Barnett, Tina M Lamey, Jamie E Craig
Purpose: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa. Methods: DNA from the proband was sequenced using a gene panel for inherited retinal disorders, and a single nucleotide polymorphism (SNP) array was conducted to detect the presence of deletions and uniparental disomy...
2018: Molecular Vision
Juthaporn Assawachananont, Soo-Young Kim, Koray D Kaya, Robert Fariss, Jerome E Roger, Anand Swaroop
In the mammalian retina, rod and cone photoreceptors transmit the visual information to bipolar neurons through highly-specialized ribbon synapses. We have limited understanding of regulatory pathways that guide morphogenesis and organization of photoreceptor presynaptic architecture in the developing retina. While leucine zipper transcription factor NRL determines rod cell fate and function, cone-rod homeobox (CRX) controls the expression of both rod- and cone-specific genes and is critical for terminal differentiation of photoreceptors...
July 31, 2018: Human Molecular Genetics
Ricardo A Minervino, Alejandra Martín, L Micaela Tavernini, Máximo Trench
Results from a narrow set of empirical studies suggest that blind individuals' comprehension of metaphorical expressions does not differ from that of sighted participants. However, prominent accounts of metaphor comprehension yield different predictions about the blind's ability to comprehend visual metaphors. While conceptual metaphor theory leads to predicting that blind individuals should lag behind their sighted peers in making sense of this particular kind of utterances, from traditional accounts of analogical reasoning it follows that blind individuals' ability to comprehend the literal meaning of visual concepts might be sufficient to support their metaphorical application...
2018: Frontiers in Psychology
Michael P Whyte, S Deepak Amalnath, William H McAlister, Radhakrishna Pedapati, Vivekanandan Muthupillai, Shenghui Duan, Margaret Huskey, Vinieth N Bijanki, Steven Mumm
Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homozygous loss-of-function mutations within the gene SOST that encodes the inhibitor of Wnt-mediated bone formation, sclerostin. SOST2 is transmitted as an autosomal dominant (AD) or AR trait and to date caused by one heterozygous or two homozygous loss-of-function mutation(s), respectively, within the gene LRP4 that encodes the sclerostin interaction protein, low-density lipoprotein receptor-related protein 4 (LRP4)...
August 2, 2018: Bone
Xiao-Ke Shang, Mei Liu, Hong-Jun Li, Rong Lu, Shan-Shan Ding, Bin Wang, Nian-Guo Dong, Shu Chen
Nitinol alloy occluders are widely used in the transcatheter intervention treatment of congenital heart diseases like patent ductus arteriosus (PDA). However, nitinol alloy contains high levels of nickel, which can lead to toxic effects in the immune and hematopoietic systems if released in sufficient quantities. A new type of single-rivet occluder coated with nano-film has been developed to limit the release of nickel. In total, 23 patients were recruited and randomly assigned to the experimental group (n=12) with the new nano-film single-rivet occluders or the control group (n=11) with the traditional occluders...
February 2018: Current medical science
Edmund H Jooste, Rebecca Scholl, Yi-Hung Wu, Robert D B Jaquiss, Andrew J Lodge, Warwick A Ames, H Mayumi Homi, Kelly A Machovec, Nathaniel H Greene, Brian S Donahue, Nirmish Shah, Claudia Benkwitz
OBJECTIVES: To determine whether precardiopulmonary bypass (CPB) normalization of antithrombin levels in infants to 100% improves heparin sensitivity and anticoagulation during CPB and has beneficial effects into the postoperative period. DESIGN: Randomized, double-blinded, placebo-controlled prospective study. SETTING: Multicenter study performed in 2 academic hospitals. PARTICIPANTS: The study comprised 40 infants younger than 7 months with preoperative antithrombin levels <70% undergoing CPB surgery...
June 5, 2018: Journal of Cardiothoracic and Vascular Anesthesia
Ehab Abdelkader, Sara AlHilali, Christine Neuhaus, Carsten Bergmann, Tahani AlMurshed, Patrik Schatz
No abstract text is available yet for this article.
August 1, 2018: Ophthalmic Genetics
Koji M Nishiguchi, Kosuke Fujita, Naoyuki Tokashiki, Hiroshi Komamura, Sayaka Takemoto-Kimura, Hiroyuki Okuno, Haruhiko Bito, Toru Nakazawa
In patients born blind with retinal dystrophies, understanding the critical periods of cortical plasticity is important for successful visual restoration. In this study, we sought to model childhood blindness and investigate the plasticity of visual pathways. To this end, we generated double-mutant (Pde6ccpfl1/cpfl1 Gnat1IRD2/IRD2 ) mice with absent rod and cone photoreceptor function, and we evaluated their response for restoring rod (GNAT1) function through gene therapy. Despite the limited effectiveness of gene therapy in restoring visual acuity in patients with retinal dystrophy, visual acuity was, unexpectedly, successfully restored in the mice at the level of the primary visual cortex in this study...
July 17, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
A W de Borst, B de Gelder
Cortical plasticity in congenitally blind individuals leads to cross-modal activation of the visual cortex and may lead to superior perceptual processing in the intact sensory domains. Although mental imagery is often defined as a quasi-perceptual experience, it is unknown whether it follows similar cortical reorganization as perception in blind individuals. In this study, we show that auditory versus tactile perception evokes similar intra-modal discriminative patterns in congenitally blind compared with sighted participants...
July 27, 2018: Cerebral Cortex
Florent Delhommel, Florence Cordier, Frederick Saul, Lucas Chataigner, Ahmed Haouz, Nicolas Wolff
Whirlin is a protein essential to sensory neurons. Its defects are responsible for non-syndromic deafness or for the Usher syndrome, a condition associating congenital deafness and progressive blindness. This large multidomain scaffolding protein is expressed in three isoforms with different functions and localizations in stereocilia bundles of hearing hair cells or in the connector cilia of photoreceptor cells. The HHD2 domain of whirlin is the only domain shared by all isoforms, but its function remains unknown...
July 27, 2018: FEBS Journal
Annie Oh, Ellis R Loew, Melanie L Foster, Michael G Davidson, Robert V English, Kristen J Gervais, Ian P Herring, Freya M Mowat
PURPOSE: Although congenital stationary night blindness (CSNB) has been described in a Japanese beagle dog research colony, certain clinical correlates with human CSNB have not yet been described, nor has an estimate of frequency of the condition been made in inbred and outbred beagle populations. METHODS: A beagle with CSNB obtained from a commercial research dog supplier in the USA and matched control dogs (n = 3) underwent examination, refraction, ocular imaging, assessment of visual navigation ability and detailed electroretinography (ERG)...
July 26, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
Michael F Marmor, Christina Zeitz
PURPOSE: Complete congenital stationary night blindness (CSNB) is most often x-linked or recessive, and associated with a transmission defect from photoreceptors to bipolar cells. This produces a characteristic "negative" Schubert-Bornschein type of scotopic rod-cone electroretinogram (ERG) with a large a-wave and minimal b-wave. CSNB from abnormalities in phototransduction can be recessive or dominant and is much less common. This produces a Riggs type of ERG with loss of the rod a-wave as well as the b-wave...
August 2018: Documenta Ophthalmologica. Advances in Ophthalmology
Sujith Stanley Pereira, Ajay Kumar Sinha, Joan Katherine Morris, David F Wertheim, Divyen K Shah, Stephen Terence Kempley
OBJECTIVE: To examine the feasibility of a trial allocating different blood pressure (BP) intervention levels for treatment in extremely preterm infants. DESIGN: Three-arm open randomised controlled trial performed between February 2013 and April 2015. SETTING: Single tertiary level neonatal intensive care unit. PATIENTS: Infants born <29 weeks' gestation were eligible to participate, if parents consented and they did not have a major congenital malformation...
July 26, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
Achille Pasqualotto, Michele Furlan, Michael J Proulx, Martin I Sereno
Topographically organised responses to visual and tactile stimulation are aligned in the ventral intraparietal cortex. The critical biological importance of this region, which is thought to mediate visually guided defensive movements of the head and upper body, suggests that these maps might be hardwired from birth. Here, we investigated whether visual experience is necessary for the creation and positioning of these maps by assessing the representation of tactile stimulation in congenitally and totally blind participants, who had no visual experience, and late and totally blind participants...
July 24, 2018: Brain Structure & Function
Vitor K L Takahashi, Júlia T Takiuti, Ruben Jauregui, Stephen H Tsang
Hereditary diseases of the retina represent a group of diseases with several heterogeneous mutations that have the common end result of progressive photoreceptor death leading to blindness. Retinal degenerations encompass multifactorial diseases such as age-related macular degeneration, Leber congenital amaurosis, Stargardt disease, and retinitis pigmentosa. Although there is currently no cure for degenerative retinal diseases, ophthalmology has been at the forefront of the development of gene therapy, which offers hope for the treatment of these conditions...
July 24, 2018: Ophthalmic Genetics
Radka Andrysikova, Titus Sydler, Dolf Kümmerlen, Wolfgang Pendl, Robert Graage, Romana Moutelikova, Jana Prodelalova, Katrin Voelter
A 17-week-old crossbred finishing pig was presented for lameness of approximately one week. Clinical evaluation, including ophthalmologic examination, revealed ataxia, partial flaccid paresis of the pelvic limbs, skin lesions at feet and claws, and severely reduced vision/blindness. Both eyes had multiple persistent pupillary membranes (iris-to-iris and iris-to-lens) and hypermature cataracts. Histopathological examination of the eyes revealed microphthalmia, microphakia with cataract formation, myovascularised membrane in the vitreous, retinal detachment, and retinal dysplasia...
2018: Case reports in veterinary medicine
Mikko Hirvonen, Riitta Ojala, Päivi Korhonen, Paula Haataja, Kai Eriksson, Mika Gissler, Tiina Luukkaala, Outi Tammela
OBJECTIVES: Our aim was to determine and compare the incidences of sensory impairments among very preterm (VP) (<32 + 0/7 weeks), moderately preterm (MP) (32 + 0/7-33 + 6/7 weeks), late preterm (LP) (34 + 0/7-36 + 6/7 weeks), and term infants (≥37 weeks) and to establish risk factors of neurosensory disabilities. METHODS: This national register study included all live-born infants in Finland between 1991 and 2008. Infants who died before the age of 1 year, who had any major congenital anomaly, or had missing data were excluded ( n = 21 007; 2...
August 2018: Pediatrics
Kristian N Mortensen, Albert Gjedde, Garth J Thompson, Peter Herman, Maxime J Parent, Douglas L Rothman, Ron Kupers, Maurice Ptito, Johan Stender, Steven Laureys, Valentin Riedl, Michael T Alkire, Fahmeed Hyder
Because the human brain consumes a disproportionate fraction of the resting body's energy, positron emission tomography (PET) measurements of absolute glucose metabolism (CMRglc ) can serve as disease biomarkers. Global mean normalization (GMN) of PET data reveals disease-based differences from healthy individuals as fractional changes across regions relative to a global mean. To assess the impact of GMN applied to metabolic data, we compared CMRglc with and without GMN in healthy awake volunteers with eyes closed (i...
2018: Neural Plasticity
Andrew Tsin, Brandi Betts-Obregon, Jeffery G Grigsby
Here, we seek to summarize the current understanding of the biochemical and molecular events mediated by visual cycle molecules in the eye. The structures and functions of selected visual cycle proteins and their roles in human retinal diseases are also highlighted. Genetic mutations and malfunctions of these proteins provide etiological evidence that many ocular diseases arise from anomalies of retinoid (vitamin A) metabolism and related visual processes. Genetic retinal disorders such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt's disease are linked to structural changes in visual cycle proteins...
July 12, 2018: Journal of Biological Chemistry
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