Results 51 to 60 of about 246,741 (174)

New horizons in aniridia management: Clinical insights and therapeutic advances

Taiwan Journal of Ophthalmology, 2023
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia.
Abha Gour, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, Virender Singh Sangwan   +5 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches

, 2020
Congenital aniridia is primarily characterized by hypoplasia of the iris and the retinal fovea. Foveal hypoplasia is the main cause of congenital reduced vision. Keratopathy is common in aniridia, leading to considerable visual impairment.
Landsend, Erlend Christoffer Sommer
core   +1 more source

Effect of Ritanserin and Duloxetine on the Gene Expression of Primary Aniridia and Healthy Human Limbal Stromal Cells, In Vitro

Ophthalmology and Therapy
Introduction In congenital aniridia caused by mutations in paired box 6 (PAX6), PAX6 influences the migration and differentiation of limbal epithelial cells (LECs), thereby playing a pivotal role in aniridia-associated keratopathy.
Zhen Li, Nóra Szentmáry, Fabian N. Fries, Shweta Suiwal, Ning Chai, Berthold Seitz, Lei Shi, Maryam Amini, Tanja Stachon   +8 more
doaj   +1 more source

Hippocampal Subfield Volumetry and Navigation in Congenital Blindness

Hippocampus, Volume 36, Issue 5, September 2026.
ABSTRACT The hippocampus is essential for efficient navigation. Although lack of visual experience from birth induces volumetric and structural modifications to the hippocampus, tactile and auditory navigation remain partially preserved in congenitally blind (CB) individuals.
Daniel‐Robert Chebat, Fabien C. Schneider, Ron Kupers, Maurice Ptito   +3 more
wiley   +1 more source

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

Acta Ophthalmologica, Volume 104, Issue 6, Page 604-615, September 2026.
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

Diadenosine polyphosphates in the tears of aniridia patients

, 2015
En abierto en la web del editor (septiembre 2016)Purpose To quantify diadenosine polyphosphate levels in tears of congenital aniridia patients to estimate the ocular surface changes associated with congenital aniridia compared to normal individuals ...
Carracedo Rodríguez, Juan Gonzalo, Peral Cerda, María Asunción, Pintor Just, Jesús Jerónimo   +2 more
core   +1 more source

Clinical Review of Ocular Traumas Resulting in Enucleation or Evisceration in a Tertiary Eye Care Center in Hungary

Journal of Ophthalmology, 2021
Purpose. To analyse the demographic and clinical characteristics of ocular traumas resulting in enucleation/evisceration in a large tertiary referral center in a developed country (Hungary) over a period of 15 years. Patients and Methods. A retrospective
Gábor Tóth, Milán Tamás Pluzsik, Béla Csákány, Gábor László Sándor, Olga Lukáts, Zoltán Zsolt Nagy, Nóra Szentmáry   +6 more
doaj   +1 more source

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

Pediatric Investigation, Volume 10, Issue 4, Page 333-344, August 2026.
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

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