Dec 31, 2019USH2AUSH2A Gene in Retinitis Pigmentosa: A Tale of Three PatientsBy Patricia C Sanchez Diaz, DVM, PhD, FAAO Purpose This report aims to illustrate the impact of genetic testing in the diagnosis and...
Nov 28, 2019RPGRNovel mutations of RPGR in Chinese families with X-linked retinitis pigmentosaZhimeng Zhang, Hehua Dai, Lei Wang, Tianchang Tao, Jing Xu, Xiaowei Sun, Liping Yang, Genlin Li | BMC Ophthalmology | Vol. 19, Article #...
Jul 9, 2019Learn About RPAt a glance: Retinitis PigmentosaNational Eye Institute (NEI) Last updated: July 10, 2019
Jul 1, 2019SNRNPRetinitis pigmentosa caused by variants in SNRNP200SNRNP200 is a gene recently identified as a cause of autosomal dominant retinitis pigmentosa (RP).
Dec 15, 2018USH2ARetinitis Pigmentosa and Allied DisordersFrom such work, a “multiprotein scaffold complex” model has been proposed for harmonin, whirlin, and sans.