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Retinitis - PubMed

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Last Updated: 25 July 2022

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Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.

The most common manifestation of Retinitis Pigmentosa and one of the world's most common causes of blindness are X-linked retinitis pigmentosa. We recruited a XLRP family and identified a 4 bp deletion mutation in RPGR ORF15 with Sanger sequencing, which was located in the exact same area as the missing XES coverage. Sanger sequencing discovered a pathogenic mutation in RPGR ORF15 for XLRP that was corrected with ePE, collectively.

Source link: https://doi.org/10.1038/s41434-022-00352-3


Mechanism of Cone Degeneration in Retinitis Pigmentosa.

Retinitis pigmentosa is a group of genetic disorders that result in inheritance blindness due to the degeneration of rod and cone photoreceptors. Initially, night blindness was primarily due to genetic mutations, which led to rod degeneration. In addition, we will explore the connection between these theories and help you gain a better grasp of secondary cone degeneration in RP. In RP, five common techniques of cone degeneration are involved. Interactions in RP are found in five main ways.

Source link: https://doi.org/10.1007/s10571-022-01243-2


Genetic dissection of non-syndromic retinitis pigmentosa.

Retinitis pigmentosa is one of a class of pigmentary retinopathies. It is the most common form of inherited retinal dystrophy, characterized by gradual reduction of photoreceptors that results in nyctalopia and eventually complete vision loss. The continuous retinal degeneration that progresses from the mid-periphery to the central and peripheral retina is the distinguishing feature of RP's progress. It is one of the leading causes of bilateral blindness in adults, with an incidence of 1 in 3000 people around the world. Although over 90 genes have been identified in RP patients, only half of RP patients' RP patients's genetic cause is unknown.

Source link: https://doi.org/10.4103/ijo.IJO_46_22


Generation of Human Patient iPSC-derived Retinal Organoids to Model Retinitis Pigmentosa.

Retinitis pigmentosa is a rare and inherited retinal degenerative disease with a prevalence of approximately 1/4,000 people worldwide. Progressive photoreceptor degeneration affects peripheral vision loss, night blindness, and eventually total blindness in the majority of RP patients. Patients with tumor-induced pluripotent stem cell-derived 3D retinal organoids have been a more effective tool to model the human early-onset disease pathology than cells and animals. Patient iPSC-based retinal organoid models more closely mimicked RP characteristics and represent an excellent starting point for studying disease pathogenesis and drug production in comparison to other animal models.

Source link: https://doi.org/10.3791/64045

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions