Results 91 to 100 of about 71,039 (272)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus

Electronic Physician, 2017
Introduction: The aim of this study was to assess the effectiveness of displacement surgery in damping of ocular oscillation and management of compensatory head posture in patients of congenital nystagmus.
Faried Mohammed Wagdy, Mohammed Eid Ismael, Abd Elrahman Elsebaey Sarhan   +2 more
doaj   +1 more source

A Developmental Model of Infantile Nystagmus [PDF]

, 2006
The possibility that infantile nystagmus (IN) may reflect a failure in early sensorimotor integration has been proposed for more than a century, but is only recently being borne out in animal studies.
Berry, David L., Harris, Christopher M.
core   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Management of nystagmus by surgery and botulinum toxin options: a review

British and Irish Orthoptic Journal, 2009
Aim: To critically evaluate the literature in order to explore the success of botulinum toxin and extraocular muscle surgery in the management of acquired nystagmus.
Fay Hobson, Fiona J. Rowe
doaj   +1 more source

Non‐physician delivered intravitreal injection service: A systematic review of safety, implementation, training and patient experience

Acta Ophthalmologica, EarlyView.
Abstract The global demand for intravitreal anti‐vascular endothelial growth factor (anti‐VEGF) therapy continues to rise, straining ophthalmic capacity worldwide. Task shifting from physicians to trained non‐physician healthcare professionals has emerged as a potential strategy to expand service delivery.
Trang Truong Laursen, Haris Bralic, Jakob Grauslund, Yousif Subhi, Lonny Stokholm   +4 more
wiley   +1 more source

Exploring Generative Pre-Trained Transformer-4-Vision for Nystagmus Classification: Development and Validation of a Pupil-Tracking Process

JMIR Formative Research
BackgroundConventional nystagmus classification methods often rely on subjective observation by specialists, which is time-consuming and variable among clinicians.
Masao Noda, Ryota Koshu, Reiko Tsunoda, Hirofumi Ogihara, Tomohiko Kamo, Makoto Ito, Hiroaki Fushiki   +6 more
doaj   +1 more source

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]

, 2018
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette, Collin, Rob W. J., Coppieters, Frauke, De Zaeytijd, Julie, Hoyng, Carel B, Klaver, Caroline CW, Kroes, Hester Y, Leroy, Bart, Lorenz, Birgit, Pott, Jan-Willem R, Preising, Markus, Thiadens, Alberta AHJ, Valkenburg, Dyon, Van Cauwenbergh, Caroline, van den Born, L. Ingeborgh, van Genderen, Mies M, van Schooneveld, Mary J   +16 more
core   +3 more sources

Examining associations between foundational and complex mathematics skills in people with Down syndrome and typically developing children

British Journal of Developmental Psychology, EarlyView.
Abstract Acquiring mathematical competence is essential to independent living. In this study, we investigated the mathematics profile in young people with Down syndrome (DS), and the relations between foundational and more complex mathematics skills.
Su Morris, Emily K. Farran, Katie A. Gilligan‐Lee   +2 more
wiley   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, EarlyView.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source