Retinitis Pigmentosa Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A -associated retinopathy
CONCLUSIONS: Despite their younger age, patients with Usher syndrome type 2 displayed similar choroidal and microvascular changes compared to those with nsRP.PMID:38602021 | DOI:10.1177/11206721241247421 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Alessio Antropoli Alessandro Arrigo Carlo Caprara Lorenzo Bianco Stefano Mercuri Alessandro Berni Ilaria Passerini Sofia Gambarotta Andrea Sodi Francesco Bandello Vittoria Murro Maurizio Battaglia Parodi Source Type: research

Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic
CONCLUSIONS: Our data together with comprehensive analysis of existing datasets suggest that causative variants of IMPDH1 are usually missense and mostly clustered in exons 8-10. Conversely, most missense variants outside this region and truncation variants should be interpreted with great care in clinical gene test.PMID:38604988 | DOI:10.1080/02713683.2024.2336158 (Source: Current Eye Research)
Source: Current Eye Research - April 11, 2024 Category: Opthalmology Authors: Junwen Wang Yingwei Wang Yi Jiang Shiqiang Li Xiaoyun Jia Xueshan Xiao Wenmin Sun Panfeng Wang Qingjiong Zhang Source Type: research

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss
Mol Vis. 2024 Feb 19;30:49-57. eCollection 2024.ABSTRACTRPGR pathogenic variants are the major cause of X-linked retinitis pigmentosa. Here, we report the results from 1,033 clinical DNA tests that included sequencing of RPGR. A total of 184 RPGR variants were identified: 78 pathogenic or likely pathogenic, 14 uncertain, and 92 likely benign or benign. Among the pathogenic and likely pathogenic variants, 23 were novel, and most were frameshift or nonsense mutations (87%) and enriched (67%) in RPGR exon 15 (ORF15). Identical pathogenic variants found in different families were largely on different haplotype backgrounds, ind...
Source: Molecular Vision - April 8, 2024 Category: Molecular Biology Authors: Madhulatha Pantrangi Julie Rath Nicole Kaetterhenry Kari Branham Dana Talsness James L Weber Source Type: research

Tamoxifen protects photoreceptors in the sodium iodate model
Exp Eye Res. 2024 Apr 1:109879. doi: 10.1016/j.exer.2024.109879. Online ahead of print.ABSTRACTBecause the selective estrogen receptor modulator tamoxifen was shown to be retina-protective in the light damage and rd10 models of retinal degeneration, the purpose of this study was to test whether tamoxifen is retina-protective in a model where retinal pigment epithelium (RPE) toxicity appears to be the primary insult: the sodium iodate (NaIO3) model. C57Bl/6J mice were given oral tamoxifen (in the diet) or the same diet lacking tamoxifen, then given an intraperitoneal injection of NaIO3 at 25 mg/kg. The mice were imaged a we...
Source: Experimental Eye Research - April 3, 2024 Category: Opthalmology Authors: Timothy T Lee Brent A Bell Brandon D Anderson Ying Song Joshua L Dunaief Source Type: research

Effect of molecular hydrogen, a novelly-established antioxidant, on the retinal degeneration of hereditary retinitis pigmentosa: an in-vivo study
Conclusion Different forms of H2 intervention (hydrogen-rich saline and hydrogen gas) had no obvious effects on the course of retinal degeneration in rd1 mice. The specific mechanism of photoreceptor degeneration in the hereditary RP mouse model may be different, requiring different medical interventions. (Source: Frontiers in Pharmacology)
Source: Frontiers in Pharmacology - April 3, 2024 Category: Drugs & Pharmacology Source Type: research

Role of microglia/macrophage polarisation in intraocular diseases (Review)
Int J Mol Med. 2024 May;53(5):45. doi: 10.3892/ijmm.2024.5369. Epub 2024 Mar 29.ABSTRACTMacrophages form a crucial component of the innate immune system, and their activation is indispensable for various aspects of immune and inflammatory processes, tissue repair, and maintenance of the balance of the body's state. Macrophages are found in all ocular tissues, spanning from the front surface, including the cornea, to the posterior pole, represented by the choroid/sclera. The neural retina is also populated by specialised resident macrophages called microglia. The plasticity of microglia/macrophages allows them to adopt diff...
Source: International Journal of Molecular Medicine - March 29, 2024 Category: Molecular Biology Authors: Haoran Li Biao Li Yanlin Zheng Source Type: research

Role of microglia/macrophage polarisation in intraocular diseases (Review)
Int J Mol Med. 2024 May;53(5):45. doi: 10.3892/ijmm.2024.5369. Epub 2024 Mar 29.ABSTRACTMacrophages form a crucial component of the innate immune system, and their activation is indispensable for various aspects of immune and inflammatory processes, tissue repair, and maintenance of the balance of the body's state. Macrophages are found in all ocular tissues, spanning from the front surface, including the cornea, to the posterior pole, represented by the choroid/sclera. The neural retina is also populated by specialised resident macrophages called microglia. The plasticity of microglia/macrophages allows them to adopt diff...
Source: Molecular Medicine - March 29, 2024 Category: Molecular Biology Authors: Haoran Li Biao Li Yanlin Zheng Source Type: research