Results 81 to 90 of about 17,913 (203)

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

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, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry   +10 more
doaj   +1 more source

Buphthalmos with Aniridia in a Nigerian Child. A Case Report

, 2009
This report presents a rare case of buphthalmos with aniridia in a six year old Nigerian boy who presented with bilateral large eyeballs from birth with associated loss of vision.
Ajibode, HA, Otulana, TO, TO Otulana, HA Ajibode   +3 more
core   +1 more source

Visual Function after Implantation of Aniridia Intraocular Lens for Traumatic Aniridia in Vitrectomized Eye

, 2007
Purpose To evaluate the efficacy and safety of aniridia posterior chamber intraocular lens (PCIOL) in traumatic aniridia and aphakia in vitrectomized eyes. Methods Four aphakic patients with traumatic aniridia and previous pars plana vitrectomy (PPV) due
M. Riazi Esfahani, M. Maghsoudipour, S. Moghimi   +2 more
core   +1 more source

The genetic architecture of aniridia and Gillespie syndrome [PDF]

, 2019
Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations.
Williamson, Kathleen A., Fitzpatrick, David R., Hall, Hildegard Nikki   +2 more
core   +1 more source

Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery

Life
PAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh, Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, Krisztina Knézy, Mária Bausz, Andrea Szigeti, Anita Csorba, Kitti Kormányos, Ditta Zobor, Zoltán Zsolt Nagy, Marta Cortón, Eszter Jávorszky, Kálmán Tory, Erika Maka, Timo Eppig, Achim Langenbucher, Nóra Szentmáry   +17 more
doaj   +1 more source

Aniridia et aphakia iridodialysis traumatica

, 1883
ANIRIDIA ET APHAKIA IRIDODIALYSIS TRAUMATICA Franciscus Cornelius Donders Library (-) Aniridia et aphakia iridodialysis traumatica (29) (-
Schäfer, H.
core  

Autosomal Dominant Aniridia in A Nigerian Family: A Case Report.

, 2010
A 54year old man brought his son to our clinic because of large eyeballs and poor vision from birth. Family history revealed that father and another child had poor vision and used to squeeze their faces especially in bright light.
Ajibode, HA, Otulana, TO, TO Otulana, HA Ajibode   +3 more
core   +1 more source

Effects of miR-204-5p modulation on PAX6 regulation and corneal inflammation

Scientific Reports
Congenital aniridia is a rare eye disease characterized by loss of PAX6 protein leading to aniridia-associated keratopathy that significantly reduces vision.
Mojdeh Abbasi, Maryam Amini, Petros Moustardas, Quirin Gutsmiedl, Dina Javidjam, Shweta Suiwal, Berthold Seitz, Fabian N. Fries, Ava Dashti, Yedizza Rautavaara, Tanja Stachon, Nóra Szentmáry, Neil Lagali   +12 more
doaj   +1 more source

Aniridia Congenita

, 2012
Partecipazione al panel multidisciplinare per la stesura delle linee guida della "Aniridia Congenita" 06/11 ...
PESCOSOLIDO, Nicola
core  

Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

BMC Ophthalmology
Background Aniridia is a rare panocular disease caused by gene mutation in the PAX6, which is essential for eye development. Aniridia is inherited in an autosomal dominant manner, but its phenotype can vary significantly among individuals with the same ...
Ali Can Koc, Vedat Sari, Gamze Kocak, Tuba Recber, Emirhan Nemutlu, Daniel Aberdam, Sinan Güven   +6 more
doaj   +1 more source