Zobrazeno 1 - 10
of 382
pro vyhledávání: '"congenital aniridia"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and anir
Externí odkaz:
https://doaj.org/article/95a61d19e7624819af589648a3b7bf1a
Autor:
Sara Ben Addou Idrissi, Hassan Moutei, Ahmed Bennis, Fouad Chraibi, Meriem Abdellaoui, Idriss Benatiya Andaloussi
Publikováno v:
JFO Open Ophthalmology, Vol 8, Iss , Pp 100146- (2024)
Congenital aniridia is a rare ocular disorder characterized by the partial or complete absence of iris tissue. Although the classic form is associated with a range of ocular abnormalities, including foveal and optic nerve hypoplasia, nystagmus, and c
Externí odkaz:
https://doaj.org/article/6f3d062a46604103a96c6d45f640096a
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102216- (2024)
Purpose: To present a case of aggressive proliferative vitreoretinopathy (PVR) managed with intraoperative and postoperative intravitreal methotrexate (MTX) in a patient with congenital aniridia (CI). Observations: A 41-year-old female with a history
Externí odkaz:
https://doaj.org/article/6f75686e53f84a3bae01e7e5d58b714e
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
Autor:
Giulia Marchione, Alejandra Daruich, Matthieu P. Robert, Dominique Bremond-Gignac, Sophie Valleix
Publikováno v:
JFO Open Ophthalmology, Vol 9, Iss , Pp 100147- (2025)
Externí odkaz:
https://doaj.org/article/b004c299f9c34ada814853171a8904c3
Publikováno v:
International Medical Case Reports Journal, Vol Volume 16, Pp 579-584 (2023)
Amirah Aldawood,1 Sultan Bakri,1 Batool Alotaibi2 1Ophthalmology Department, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia; 2Ophthalmology Department, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaCorrespondence: Sultan Bakri,
Externí odkaz:
https://doaj.org/article/45706ac3cd5f4063a102716f90e58ec5
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
Autor:
Javier Lozano-Sanroma, Alberto Barros, Ignacio Alcalde, Rosa Alvarado-Villacorta, Ronald M. Sánchez-Ávila, Juan Queiruga-Piñeiro, Luis Fernández-Vega Cueto, Eduardo Anitua, Jesús Merayo-Lloves
Publikováno v:
Diseases, Vol 12, Iss 4, p 76 (2024)
Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypopl
Externí odkaz:
https://doaj.org/article/6b401061e2454ad48db61814be4f0503
Akademický článek
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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