Results 71 to 80 of about 19,020 (198)

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in Genetics, 2018
Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior ...
María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton   +23 more
doaj   +1 more source

The novel ITPR1 p.Phe2566Ser variant impairs IP3R1‐mediated Ca2+ release and is associated with ataxia and miosis

Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent, Songbai Zhang, Andrew Nolan, Shigeaki Kanatani, Frida Nordin, Malin Kvarnung, Per Uhlén, Martin Paucar, Ilse Eidhof   +8 more
wiley   +1 more source

Aniridia congénita y microcefalia en dos gemelas [PDF]

, 2001
Revisar casos y literatura sobre presencia de aniridia y ...
F. Celis-Victoria, C. Pérez, H. Ostos-Alfonso, Ostos-Alfonso, H., Vargas, J., J. Vargas, Celis-Victoria, F., Pérez, C.   +7 more
core  

Structural brain abnormalities in 12 persons with aniridia [version 2; referees: 2 approved]

F1000Research, 2017
Background: Aniridia is a disorder predominately caused by heterozygous loss-of-function mutations of the PAX6 gene, which is a transcriptional regulator necessary for normal eye and brain development.  The ocular abnormalities of aniridia have been well
Madison K. Grant, Anastasia M. Bobilev, Jordan E. Pierce, Jon DeWitte, James D. Lauderdale   +4 more
doaj   +1 more source

Combined aniridic intraocular lens implantation and vitreoretinal surgery

Indian Journal of Ophthalmology, 2007
A 45-year-old man presented with post-traumatic aniridia. We describe the combined surgery done to treat both aniridia and epiretinal membrane simultaneously. A combined aniridia intraocular lens and vitreoretinal surgery was done.
Mehta Hitendra, Mehta Hijab, Jayadev Chaitra, Natarajan S   +3 more
doaj  

A technique for the management of posttraumatic aniridia and aphakia

, 2020
Aim: To describe our results with HumanOptics IOL-ArtificialIris complex in post traumatic aphakia and aniridia.Methods: Retrospective, single-surgeon chart review of cases in which aniridia and aphakia were corrected using HumanOptics IOL ...
Pereira Bruxelas, C, Sousa Silva, R, Costa Andrade, G, Correa Maia, A   +3 more
core   +1 more source

Anterior chamber angle in aniridia with and without glaucoma

Clinical Ophthalmology, 2019
Asima Bajwa,1 Eitan Burstein,1 Robert M Grainger,1,2 Peter A Netland11Department of Ophthalmology, University of Virginia School of Medicine, Charlottesville, VA, USA; 2Department of Biology, University of Virginia, Charlottesville, VA, USAPurpose: We ...
Bajwa A, Burstein E, Grainger RM, Netland PA   +3 more
doaj  

The Effect of Glaucoma Treatment on Aniridia-Associated Keratopathy (AAK) - A Report from the Homburg Register for Congenital Aniridia [PDF]

Congenital aniridia is a severe malformation of almost all eye segments. Aniridia-associated keratopathy (AAK) and secondary glaucoma, which occur in more than 50% of affected individuals, are typically progressive and pose a high risk of blindness for ...
Lagali, Neil, Käsmann-Kellner, Barbara, Fries, Fabian Norbert, Stachon, Tanja, Munteanu, Cristian, Szentmáry, Nóra, Náray, Annamária, Seitz, Berthold   +7 more
core   +1 more source

PAX6 gene variations associated with aniridia in south India

BMC Medical Genetics, 2004
Background Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south Indian population. Methods Total
Shashikant Shetty, Vijayalakshmi Perumalsamy, Krishnadas Subbaiah, Neethirajan Guruswamy, Sundaresan Periasamy   +4 more
doaj   +1 more source

DNA diagnosis in a family with autosomal dominant aniridia

, 1991
A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media.
Redeker, E. J., Verbraak, F. D., Bleeker-Wagemakers, E. M., Saunders, G. F., Mannens, M. A.   +4 more
core   +1 more source