Results 41 to 50 of about 22,474 (255)
Visual Acuity in Aniridia and WAGR Syndrome
Clinical Ophthalmology, 2023 Michael A Krause,1 Kelly L Trout,2 James D Lauderdale,3 Peter A Netland1 1Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2International WAGR Syndrome Association, Montgomery Village, MD, USA; 3Department
Krause MA +3 more
doaj
Increased functional connectivity in intrinsic neural networks in individuals with aniridia
Frontiers in Human Neuroscience, 2014 Mutations affecting the PAX6 gene result in aniridia, a condition characterized by the lack of an iris and other panocular defects. Among humans with aniridia, structural abnormalities also have been reported within the brain.
Jordan Elisabeth Pierce +7 more
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A descriptive presentation of a family showing various features of aniridia and its genetic analysis
Kerala Journal of Ophthalmology, 2021 The abnormal neuroectodermal development due to the PAX 6 gene mutation results in aniridia, a rare disorder. We report herein a family that presented with aniridia, myopia, ptosis, glaucoma, cataract, and sensory nystagmus. This family provides a unique
Meenakshi Wadhwani +2 more
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Epilepsia, EarlyView.Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo +7 more
wiley +1 more source
A liquid crystal based contact lens display using PEDOT: PSS and obliquely evaporated SiO2 [PDF]
, 2012 An active spherically conformed liquid crystal cell is presented comprising PEDOT:PSS as a transparent conductive layer and obliquely evaporated SiO2 as an alignment layer. To tackle compatibility issues with the SU8 processing needed for the spacers, an
Avci, Aykut +4 more
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Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Aniridia in Two Related Tennessee Walking Horses
Case Reports in Veterinary Medicine, 2013 Aniridia in horses is rare and has previously been reported to be genetically transmitted in Belgian horses and Quarter horses. This paper describes the defect in 2 related Tennessee Walking horses, with special reference to new findings regarding the ...
Karen A. McCormick +2 more
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Molecular Therapy: Nucleic Acids, 2023 Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in ...
Dulce Lima Cunha +5 more
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Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Limbal stem cell transplantation: clinical results, limits, and perspectives [PDF]
, 2018 Limbal stem cell deficiency (LSCD) is a clinical condition characterized by damage of cornea limbal stem cells, which results in an impairment of corneal epithelium turnover and in an invasion of the cornea by the conjunctival epithelium.
Bruscolini, Alice +3 more
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