Zobrazeno 1 - 10
of 385
pro vyhledávání: '"PAX6 gene"'
Autor:
LI Weihou, LIU Danning
Publikováno v:
陆军军医大学学报, Vol 46, Iss 11, Pp 1277-1283 (2024)
Objective To analyze the genetic features of congenital aniridia in a family and to explore the characteristics of PAX6 gene mutations and differences in clinical phenotypes. Methods The medical history and clinical data of this family line were coll
Externí odkaz:
https://doaj.org/article/8c0a6e5e581a442fb43bc400378ad4e3
Publikováno v:
International Journal of Ophthalmology, Vol 17, Iss 3, Pp 466-472 (2024)
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. METHODS: Eleven family members with and without at
Externí odkaz:
https://doaj.org/article/850a5c3fcac64d5986af6e434f6e2fbe
Autor:
Olga S. Kupriyanova, George A. Karkashadze, Natalia V. Zhurkova, Leila S. Namova-Baranova, Ayaz M. Mamedyarov
Publikováno v:
Вопросы современной педиатрии, Vol 22, Iss 4, Pp 305-310 (2023)
Congenital aniridia manifests with total or partial absence of the iris. The association of the disease with the PAX6 gene has been proven. Changes in the PAX6 structure lead to intrauterine pathology, visual organ malformation, malformation of maste
Externí odkaz:
https://doaj.org/article/8ebdab726566448382182ff173a390f7
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-14 (2023)
Abstract Background According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel mis
Externí odkaz:
https://doaj.org/article/2edf654b82304bfeb8551e314098e0fa
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 467-478 (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. In the majority
Externí odkaz:
https://doaj.org/article/ffda350475cc4cc7a579fa3bcf42e32c
Akademický článek
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Autor:
Lijuan Huang, Jiajia Peng, Yan Xie, Yunyu Zhou, Xiaolin Wang, Hui Wang, Jingang Gui, Ningdong Li
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and
Externí odkaz:
https://doaj.org/article/2ae6acc59aa744119fd3bd625c7b0130
Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia p
Externí odkaz:
https://doaj.org/article/70e99b1282c7406e946b45b6ffcce3ab
Publikováno v:
Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 457-463 (2021)
We report a case of morning glory disc anomaly in a young patient with tractional retinal detachment successfully repaired with complex pars plana vitrectomy, membrane peel, laser, and oil tamponade. A 19-year-old female with a history of right morni
Externí odkaz:
https://doaj.org/article/0b5597655ccb4c0dbe7e8bfabe1ff800
Autor:
Mario Jorge Santos, Milton Ruiz Alves, Carlos Dornels Freire de Souza, Bruno Nobre Lins Coronado, Janaina Christina Norberto de Souza
Publikováno v:
Revista Brasileira de Oftalmologia, Vol 79, Iss 6, Pp 397-402 (2021)
Abstract Objective: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with CA in Northeastern Brazil. Methods: This was a cross-sectional study involving 31 individuals (56 eyes) from the same
Externí odkaz:
https://doaj.org/article/8fa9fa9db5e4431fb0fab45d558e178f