Results 1 to 10 of about 246,741 (174)

Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia [PDF]

Ophthalmology and Therapy
Introduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients.
Jessica Obst, Nóra Szentmáry, Fabian N Fries   +2 more
exaly   +7 more sources

Coexistence of Congenital Aniridia and Ptosis in a Patient with Neurofibromatosis Type I: A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas, and plexiform neurofibromas, all of ...
Maura Mancini, Paola Palino, Alessandro Calderone, Giovanni W. Oliverio, Pasquale Aragona, Alessandro Meduri   +5 more
doaj   +3 more sources

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

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   +3 more sources

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

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   +2 more sources

The impact of vision impairment on living with congenital aniridia: a pan-European survey study [PDF]

Orphanet Journal of Rare Diseases
Background Congenital aniridia is a rare but severe eye disease stemming from genetic variants in PAX6 or related genes and affecting all eye structures, causing lifelong disability. Awareness of the disease is poor even among ophthalmology professionals,
Renáta Schoffer, Christina Grupcheva, Ivana Kildsgaard, Barbara Poli, Barbara Käsmann-Kellner, Nóra Szentmáry, Erika Maka, Mária Csidey, Annamária Náray, Fabian N. Fries, Zamira Hoxha, Tanja Stachon, Francisco Figueiredo, Jesper Hjortdal, Vito Romano, Claus Cursiefen, Galina Genning, Berthold Seitz, Alejandra Daruich, Dominique Bremond-Gignac, Rosa Sanchez de Vega, Neil Lagali   +21 more
doaj   +2 more sources

Clinical and molecular aspects of congenital aniridia – A review of current concepts [PDF]

Indian Journal of Ophthalmology, 2022
Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal, Ria Ratna, Abha Gour, Sumita Agarkar, Suneeta Dubey, Suma Ganesh, Ramesh Kekunnaya, Virender Sangwan, Yutao Liu, Vanita Vanita   +9 more
doaj   +2 more sources

Wilms' tumor and congenital aniridia [PDF]

Ca-A Cancer Journal for Clinicians, 1969
Among 28 children under 4 years of age hospitalized with congenital aniridia, Wilms' tumor subsequently developed in six and one had the neoplasm on admission. Five of these seven patients have not, to our knowledge, been reported previously, bringing to 22 the total number of cases known with this association.
J F Fraumeni
exaly   +5 more sources

Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis [PDF]

Ophthalmology and Therapy
Introduction This study aimed to compare the surgical outcomes of trabeculectomy and glaucoma drainage device (GDD) implantation in patients with congenital aniridia.
Gábor Tóth, Shanhe Liu, Shuailin Li, Szilárd Váncsa, Mátyás Paczkó, Tamás Kói, Péter Hegyi, Nóra Szentmáry   +7 more
doaj   +2 more sources

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus [PDF]

BMC Ophthalmology, 2021
Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu   +7 more
doaj   +2 more sources

Novel clinical presentation and PAX6 mutation in families with congenital aniridia [PDF]

Frontiers in Medicine, 2022
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo, Xiaotian Zhang, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liu   +5 more
doaj   +2 more sources