Results 91 to 100 of about 246,741 (174)

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

, 2018
Purpose: Congenital aniridia, a severe bilateral panocular visual disorder, is an autosomal dominantly inherited eye anomaly. Mutations in the paired box 6 gene (PAX6) have been shown to be responsible for congenital aniridia in most patients.
Xianjun Zhu (144118), Shi Ma (217876), Lejin Wang (5395808), Zequn Miao (5395811), Yi Shi (169113), He Lin (217878), Xiaoqi Liu (45630), Lulin Huang (256539), Bo Gong (217867), Yaqi Wu (4455664), Fang Hao (535483), Houbin Zhang (5395805), Zhenglin Yang (24489)   +12 more
core   +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

Bilateral aniridia and congenital ureteral valve: Role of genetic testing

, 2020
Background Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability.
Dennis S. Peppas, Eran Rosenberg, Lisa B. E. Shields   +2 more
core   +1 more source

Aniridia-Wilms′ tumour syndrome-A case report

Indian Journal of Ophthalmology, 1992
Wilms′ tumour is rarely associated with sporadic non-familial congenital aniridia. A child with sporadic aniridia has a 25% chance of subsequently developing Wilms′ tumour.
Vidyasagar M, Sagar Sudha, Kumar Girija, Rao PLNG   +3 more
doaj  

Bilateral sporadic aniridia: review of management

, 2010
Caroline O Adeoti1, Adeyinka A Afolabi2, Adebimpe O Ashaye3, Adenike O Adeoye41Department of Ophthalmology, 2Department of Paediatrics, Ladoke Akintola University of Technology (LAUTECH) Teaching Hospital, Osogbo, Osun State, Nigeria; 3University College
Adeyinka A Afolabi, Adebimpe O Ashaye, et al, Caroline O Adeoti, null ADEOTI   +4 more
core   +1 more source

Gene expression study in the siRNA based aniridia cell model and in primary aniridia limbal epithelial cells following duloxetine and ritanserin treatment.

PLoS ONE
Progressive aniridia associated keratopathy is worsening visual acuity of congenital aniridia subjects lifelong. Restoration of PAX6 expression in PAX6 haploinsufficient limbal epithelial cells could be one therapeutic option.
Shweta Suiwal, Tanja Stachon, Zhen Li, Marta Corton, Mahsa Nastaranpour, Ning Chai, Maryam Amini, Berthold Seitz, Fabian N Fries, Thomas Tschernig, Nóra Szentmáry   +10 more
doaj   +1 more source

Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure. [PDF]

Invest Ophthalmol Vis Sci, 2023
Pedersen HR, Gilson SJ, Landsend ECS, Utheim ØA, Utheim TP, Baraas RC.   +5 more
europepmc   +1 more source

Age Impairs Corneal Sensitivity and Reflex Tearing in Congenital Aniridia

In press[Purpose] To characterize, for the first time, corneal sensory nerve functionality in congenital aniridia by assessing mechanical and cold corneal sensitivity, reflex tearing, and basal blinking and tearing.[Methods] A cohort of fourteen ...
Jávorszky, Eszter, Cortón, Marta, Zobor, Ditta, Gallar, Juana, Kovács, Illés, Acosta, M. Carmen, Csidey, Mária, Tory, Kálmán, Nagy, Zoltán Z., Szentmáry, Nóra, Maka, Erika, Náray, Annamária   +11 more
core   +1 more source

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. [PDF]

Int J Mol Sci, 2023
Vasilyeva TA, Sukhanova NV, Marakhonov AV, Kuzina NY, Shilova NV, Kadyshev VV, Kutsev SI, Zinchenko RA.   +7 more
europepmc   +1 more source

Clinical And Molecular-Genetic Features Of Congenital Aniridia [PDF]

, 2018
Vasilyeva T. A.1, Voskresenskaya A. A.2, Kadyshev V. V.1, Pozdeyeva N. A.2, Marakhonov A. V.1,3, Zinchenko R. A.1,4 1 Research Center for Medical Genetics, Moscow 2 Cheboksary branch of S.
Voskresenskaya A. A, A.V. Marakhonov, T.A. Vasilieva, V.V. Kadyshev, N.A. Pozdeeva, R.A. Zinchenko   +5 more
core   +1 more source