Results 41 to 50 of about 7,292 (198)

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]

International Journal of Ophthalmology
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin, Chun-Yun Feng, Jin Li, An-Peng Pan, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen   +6 more
doaj   +1 more source

Pax6- and Six3-Mediated Induction of Lens Cell Fate in Mouse and Human ES Cells [PDF]

, 2014
Embryonic stem (ES) cells provide a potentially useful in vitro model for the study of in vivo tissue differentiation. We used mouse and human ES cells to investigate whether the lens regulatory genes Pax6 and Six3 could induce lens cell fate in vitro ...
Anchan, Raymond M., Cavallesco, Resy, Eaton, Jennifer L., Gerami-Naini, Behzad, Lachke, Salil A., Lindsey, Jennifer, Maas, Richard L., Naber, Catherine, Ng, Nicholas, Nickerson, Michael, Rowan, Sheldon, Xi, Qiongchao   +11 more
core   +7 more sources

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

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

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

Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]

, 2013
Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed, Ahmed, Ahmed, Ahmed, Akre, Antonio Balsamo, Bangsbøll, Bebermeier, Berger, De Groote, Dolk, Duguid, Feyza Darendeliler, Flück, Gottlieb, Guerrier, Hiort, Hughes, Hughes, Hughes, Ieuan Hughes, Jillian Bryce, Jipu Jiang, Kathryn Cox, Kreidberg, Köhler, Laura Audi, Lidka Lisa, Martina Rodie, Martine Cools, Melià, Miles, Mona Alkhawari, Mona Ellaithi, Morcel, Nabhan, Nils Krone, Nowaczyk, Olaf Hiort, Olle Soder, Ono, Pang, Paul-Martin Holterhus, Peter Wieacker, Porter, Richard Sinnott, S. Faisal Ahmed, Silvano Bertelloni, Stenvert Drop, Sun, Telvi, Thyen, Tokgoz, Tosson, Tulay Guran, Wiebke Arlt, Yang, Yinon, Yves Morel   +58 more
core   +3 more sources

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

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report [PDF]

, 2009
Udgivelsesdato: 2009-nullABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region ...
Gitte J Almind, Karen Brøndum-Nielsen, Karen Grønskov, Peter Baekgaard, Regitze Bangsgaard   +4 more
core   +3 more sources

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

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations [PDF]

, 2018
Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth ...
A Kikuchi, Alan C Braverman, AN Moosa, Anji Yetman, Anna L Mitchell, Anne Child, Anthony Estrera, AT Yetman, Birgit Lorenz, BL Loeys, Cori Feist, Denver Sallee, Dianna M Milewicz, DJ Schneider, DM Milewicz, Ellen S Regalado, ES Regalado, ES Roach, FM Roulez, Glen Iannucci, Hiroko Morisaki, HU Moller, J de Grazia, J Richer, JL Anderson, John R Ostergaard, Julie De Backer, Julie Richer, Kathryn C Chatfield, Kathryn W Holmes, Lauren Mellor-Crummey, LC Ades, Lesley Ades, LW Fung, M Al-Mohaissen, M Elizabeth Brickner, M Keir, MC Brodsky, ME Meuwissen, MM Georgescu, MR Amans, Mustafa Tekin, NJ Ullrich, P Munot, Patricia Musolino, Paul Mark, Reed Pyeritz, RV Lacro, S Prabhu, Shaine A Morris, Sherene Shalhub, Susan Benedict, T Logeswaran, Takayuki Morisaki, Timothy J Bradley, Y Arlachov   +55 more
core   +3 more sources