X-linked retinitis pigmentosa GTPase regulator is a GTPase -binding protein that in humans is encoded by the RPGR gene. [5][6][7][8] The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP).

2024年12月25日 · RPGR (Retinitis Pigmentosa GTPase Regulator) is a Protein Coding gene. Diseases associated with RPGR include Retinitis Pigmentosa 3 and Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness. Among its related pathways is Ciliary landscape.

The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia.

2021年5月3日 · RPGR: Its role in photoreceptor physiology, human disease, and future therapies. Exp Eye Res. 2015;138:32-41 Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

2021年8月16日 · Hope may be on the horizon for people with retinitis pigmentosa, a rare inherited eye disease with no cure. Existing treatments only help a fraction of the estimated 100,000 Americans with this condition. But advances in gene therapy may soon help restore vision to a greater number of people.

More than 300 mutations in the RPGR gene have been found to cause the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness in early childhood followed by progressive daytime vision loss. RPGR gene mutations account for about 70 percent of all cases of X-linked retinitis pigmentosa.

Purpose : Mutations within the retinitis pigmentosa GTPase regulator (RPGR) are the most frequent cause of X-Linked Retinitis Pigmentosa (XLRP), a common and severe form of inherited retinal disease. XLRP is characterised by the progressive degeneration and loss of photoreceptors, leading to visual loss and, ultimately, bilateral blindness.

Pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene represent an important cause of vision loss, accounting for nearly 5% of all instances of retinal degeneration. 1 Located on chromosome Xp21.1, RPGR has several alternatively spliced isoforms with the retina-specific open reading frame 15 (RPGR ORF15) being the major ...

2020年11月13日 · Data on the novel adeno-associated virus retinitis pigmentosa GTPase regulator (AAV-RPGR), jointly developed with MeiraGTx Holdings plc, were presented today as a late-breaking study at the American Academy of Ophthalmology (AAO) …

An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1- RPGR) in Subjects with X-linked Retinitis Pigmentosa caused by RPGR-ORF15 mutations. The purpose of this study is to learn about a new investigational gene therapy that may help patients with XLRP.