Results 31 to 40 of about 19,020 (198)

Traumatic Aniridia Following a Blunt Ocular Trauma in a Pseudophakic Patient [PDF]

, 2014
Blunt ocular traumas cause serious ocular problems in the anterior and posterior segments of the eye and even may result in globe perforation. In the literature, some cases have been reported with aniridia by traumatic iris expulsion and preserved ...
Tufan, Hasan Ali, Selçuk Kara, Gencer, Baran, Baran Gencer, Hasan Ali Tufan, Comez, Arzu Taskiran, Arzu Taşkıran Çömez, Kara, Selcuk, Arikan, Sedat, Sedat Arıkan   +9 more
core   +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

Bilateral sporadic aniridia: review of management

, 2010
Caroline O Adeoti1, Adeyinka A Afolabi2, Adebimpe O Ashaye3, Adenike O Adeoye41Department of Ophthalmology, 2Department of Paediatrics, Ladoke Akintola University of Technology (LAUTECH) Teaching Hospital, Osogbo, Osun State, Nigeria; 3University College
Adeyinka A Afolabi, Adebimpe O Ashaye, et al, Caroline O Adeoti, null ADEOTI   +4 more
core   +1 more source

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story

Türk Oftalmoloji Dergisi, 2022
Congenital aniridia is a rare condition affecting a wide range of ocular structures, from the ocular surface to the retina. We present the case of a 59-year-old woman with PAX6- and WT1-negative congenital aniridia who developed aniridia-associated ...
Ioannis Athanasiadis, Michael Tsatsos, Nikolaos Ziakas   +2 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

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

Scleral fixation of brown diaphragm intraocular lens in cases of posttraumatic aniridia with aphakia

Journal of Clinical Ophthalmology and Research, 2019
Traumatic aniridia is a devastating complication of penetrating ocular injuries. Aniridia associated with aphakia can be treated with standard intraocular lens (IOL) implantation with or without scleral fixation; however, the problem of photophobia and ...
Ronel Soibam, Pritam Bawankar, Harsha Bhattacharjee, Krati Gupta   +3 more
doaj   +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

Nonlinearities and Switch‐Like Behavior in Gene Expression: From Genetics to Biochemistry and Back

The FASEB Journal, Volume 40, Issue 16, 31 August 2026.
Modest changes in transcription‐factor or chromatin‐regulator dosage can have disproportionate effects when gene‐regulatory systems operate near nonlinear thresholds. Sigmoidal input–output relationships, chromatin and cofactor recruitment, and changes in threshold position or response steepness provide molecular routes by which quantitative dosage ...
Reiner A. Veitia, James A. Birchler
wiley   +1 more source

Traumatic aniridia in a pseudophakic patient 6 years following surgery

, 2012
Mikel Mikhail1, Keyvan Koushan2, Rajeshvar K Sharda2, Gloria Isaza2, Keith D Mann21Michael G DeGroote School of Medicine, 2Division of Ophthalmology, Department of Surgery, McMaster University, Hamilton, ON, CanadaPurpose: To report a case of aniridia in
Koushan, Mann, Isaza G, Koushan K, Mikhail M, Mann KD, Isaza, Sharda RK, Sharda, Mikel Mikhail   +9 more
core   +1 more source