SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

PURPOSE: Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diver...

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Detalles Bibliográficos
Autores principales: Young, Terri L., Whisenhunt, Kristina N., Jin, Jing, LaMartina, Sarah M., Martin, Sean M., Souma, Tomokazu, Limviphuvadh, Vachiranee, Suri, Fatemeh, Souzeau, Emmanuelle, Zhang, Xue, Dan, Yongwook, Anagnos, Evie, Carmona, Susana, Jody, Nicole M., Stangel, Nickie, Higuchi, Emily C., Huang, Samuel J., Siggs, Owen M., Simões, Maria José, Lawson, Brendan M., Martin, Jacob S., Elahi, Elahe, Narooie-Nejad, Mehrnaz, Motlagh, Behzad Fallahi, Quaggin, Susan E., Potter, Heather D., Silva, Eduardo D., Craig, Jamie E., Egas, Conceição, Maroofian, Reza, Maurer-Stroh, Sebastian, Bradfield, Yasmin S., Tompson, Stuart W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545080/
https://www.ncbi.nlm.nih.gov/pubmed/33027505
http://dx.doi.org/10.1167/iovs.61.12.6

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