Results 91 to 100 of about 25,639 (292)

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities

BMC Ophthalmology, 2022
Background Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have ...
Junyi Ouyang, Ziyan Cai, Yinjie Guo, Fen Nie, Mengdan Cao, Xuanchu Duan   +5 more
doaj   +1 more source

Congenital aniridia- there's more than meets the eye

TNOA Journal of Ophthalmic Science and Research, 2021
Congenital aniridia is a rare panocular disorder, leading to significant visual impairment which may present as an isolated ocular phenotype or in association with a systemic syndrome.
G N Subathra, Indira Durai, Sahithya Bhaskaran   +2 more
doaj   +1 more source

Causes of congenital corneal opacities and their management in a tertiary care center. [PDF]

, 2020
PURPOSE: To evaluate causes and management of congenital corneal opacities (CCO) diagnosed in a tertiary care eye center and to compare the data with a previous study at the same institution.
Hammersmith, Kristin M, Karadag, Remzi, Nagra, Parveen K, Rapuano, Christopher J   +3 more
core   +1 more source

Ritanserin, a potent serotonin 2A receptor antagonist, represses MEK/ERK signalling pathway to restore PAX6 production and function in aniridia-like cellular model.

Biochemical and Biophysical Research Communications - BBRC, 2021
Aniridia is a panocular inherited rare eye disease linked to heterozygous mutations on the PAX6 gene, which fail to properly produce sufficient protein essential for normal eye development and function.
K. Oved, Léa Zennaro, Orly Dorot, Johanna Zerbib, Elie Frank, L. Roux, E. Pichinuk, D. Aberdam   +7 more
semanticscholar   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome

Egyptian Journal of Medical Human Genetics
Background WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R).
Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim, Houda Benrahma   +4 more
doaj   +1 more source

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

BMC Ophthalmology, 2023
Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun   +8 more
doaj   +1 more source

A proof-of-concept clinical trial using mesenchymal stem cells for the treatment of corneal epithelial stem cell deficiency [PDF]

, 2019
Producción CientíficaOcular stem cell transplantation derived from either autologous or allogeneic donor corneoscleral junction is a functional cell therapy to manage extensive and/or severe limbal stem cell deficiencies that lead to corneal epithelial ...
Alberca Zaballos, Mercedes, Calonge Cano, Margarita, Fernández Martínez, Itziar, Galindo de la Rosa, Sara, García-Sancho Martín, Francisco Javier, Herreras Cantalapiedra, José María, López Paniagua, Marina, Nieto Miguel, Teresa, Pérez Soto, María Inmaculada, Sánchez García, Ana María de los Ángeles   +9 more
core   +2 more sources

A two‐step formula constant optimization strategy for minimal standard deviation and zero mean prediction error in IOL power calculation

Acta Ophthalmologica, Volume 104, Issue 2, Page 181-192, March 2026.
Abstract Purpose To investigate the precision and accuracy performance of a two‐step approach for optimizing lens formula constants (FC) with a refractive offset correction (RO) as a second tuning parameter. Methods Using IOLMaster 700 biometric data from 4 datasets (886/613/821/467 eyes treated with the Hoya Vivinex/Johnson&Johnson ZCB00/Alcon SA60AT ...
Achim Langenbucher, Nóra Szentmáry, Jascha Wendelstein, Alan Cayless, Peter Hoffmann, Damien Gatinel   +5 more
wiley   +1 more source

Sindrom WAGR - prikaz slučaja [PDF]

, 2009
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of llp13 chromosome.
Marina Mataija, Mirta Starčević
core   +1 more source