Results 21 to 30 of about 53,699 (140)

Myopia and defocus: the current understanding [PDF]

, 2011
The current theories relating to the development and progression of myopia are related to exposure of the eye to hyperopic defocus. This paper discusses these theories and the large body of recent research investigating the evidence behind them.
Day, Mhairi, Duffy, Lorraine
core   +1 more source

Multi‐Disease Detection in Retinal Imaging Using VNet with Image Processing Methods for Data Generation

Advanced Intelligent Systems, EarlyView.
This study introduces a data augmentation method that expands an ophthalmology dataset by 12x, enhancing robustness and reducing overfitting. A novel VNet architecture improves accuracy by 10% over the original dataset and 5% over Grand Challenge benchmarks.
Samad Azimi Abriz, Mansoor Fateh, Fatemeh Jafarinejad, Vahid Abolghasemi   +3 more
wiley   +1 more source

Prevalence and risk factors for myopia and other refractive errors in an adult population in southern India. [PDF]

, 2018
PURPOSE: To investigate prevalence and risk factors for myopia, hyperopia and astigmatism in southern India. METHODS: Randomly sampled villages were enumerated to identify people aged ≥40 years.
Bourne, Chang, Chylack, Diez Ajenjo, Eye Disease Prevalence Group, Foster, Gupta, Hyman, Hysi, Jones-Jordan, Kim, Krishnaiah, Lee, Liang, Lim, McCarty, Morgan, Morgan, Nangia, Pan, Pan, Pan, Pan, Pan, Pan, Pesudovs, Raju, Robin, Rose, Saw, Saxena, Tarczy-Hornoch, Vashist, Verhoeven, Williams, Wong, Wu, Xu   +37 more
core   +1 more source

Changes in forward light scatter parameters as a function of refractive error in young adults [PDF]

, 2020
Background/aims Some aspects of visual performance worsen with increasing myopia. Whilst the underlying causes are not always clear, reduction in retinal image quality is often attributed to structural changes in the posterior myopic eye.
Barbur, J., Nagra, M., Patel, M.
core   +2 more sources

Ocular manifestations in Gorlin-Goltz syndrome [PDF]

, 2019
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F., Giustini, S., Himmelblau, E., Iacovino, C., Lambiase, A., Mallone, F., Miraglia, E., Moramarco, A., Roberti, V.   +8 more
core   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia [PDF]

, 2012
Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association study (
Do, Chuong B., Eriksson, Nicholas, Francke, Uta, Hinds, David A., Kiefer, Amy K., Mountain, Joanna L., Tung, Joyce Y.   +6 more
core   +5 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Морфологические особенности диска зрительного нерва и перипапиллярной области сетчатки при высокой осевой миопии [PDF]

, 2012
Метою роботи було дослідження морфологічних особливостей диску зорового нерву та перипапілярної зони сітківки при високій осьовій міопії методом спектральної оптичної когерентної томографії (СОКТ).
Венгер, Л.В., Ульянова, Н.А.   +1 more
core