Results 71 to 80 of about 25,639 (292)

Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype.

American journal of ophthalmology-glaucoma, 2021
PURPOSE To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations. DESIGN Retrospective case series.
A. Daruich, M. Robert, Camille Leroy, Nathalie de Vergnes, C. Beugnet, V. Malan, S. Valleix, D. Bremond-Gignac   +7 more
semanticscholar   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

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, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 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, Daniel Ward, Kimberly M. Newkirk   +2 more
doaj   +1 more source

Ocular hypertension in myopia: analysis of contrast sensitivity [PDF]

, 2018
Purpose: we evaluated the evolution of contrast sensitivity reduction in patients affected by ocular hypertension and glaucoma, with low to moderate myopia.
Arrico, L, Bianchini, D, Migliorini, R, Nebbioso, M., Quercia, A   +4 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

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, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Long-Term Anatomical and Functional Survival of Boston Type 1 Keratoprosthesis in Congenital Aniridia

Frontiers in Medicine, 2021
Purpose: To analyze the long-term anatomical survival, functional survival, and complications of Boston type 1 keratoprosthesis (KPro) in the eyes with congenital aniridia-associated keratopathy (AAK).
A. Dyer, Alix De Faria, Gemma Julio, Juan Alvarez de Toledo, R. Barraquer, M. F. de la Paz   +5 more
semanticscholar   +1 more source

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

Clinical Characteristics and Treatment of Ophthalmic Sequelae of Stevens–Johnson Syndrome and Toxic Epidermal Necrolysis at a Tertiary Eyecare Centre in Hungary

Ophthalmology and Therapy
Introduction This study analysed the causative factors and clinical characteristics of acute and chronic ocular sequelae of Stevens–Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) treated at a large third-referral centre in a developed country (
Gábor Tóth, Andrea Lukács, Tanja Stachon, Frank Schirra, Gábor László Sándor, Zoltán Zsolt Nagy, Nóra Szentmáry   +6 more
doaj   +1 more source

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, Manoj Kumar, Rima Dada   +2 more
doaj   +1 more source

Ceratoprótese de Boston tipo I: Revisão [PDF]

, 2012
Regardless of significant progress in the field of corneal transplantation to treat corneal opacification, some cases of corneal blindness still present a poor prognosis for conventional penetrating keratoplasty.
Magalhães, Fernanda Pedreira, Oliveira, Lauro Augusto de, Sousa, Luciene Barbosa de   +2 more
core   +2 more sources