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X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P, Pagliazzi A, Bargiacchi S, Marziali E, Sodi A, Caputo R, Passerini I, Pelo E, Bacci GM. Fortunato P, et al. Ophthalmic Genet. 2023 Feb;44(1):35-42. doi: 10.1080/13816810.2022.2141790. Epub 2022 Nov 15. Ophthalmic Genet. 2023. PMID: 36377647 Review.
BACKGROUND: X-linked juvenile retinoschisis (LRS) is an X-linked vitreoretinal degenerative disease that consists of variable phenotypes ranging from severe early-onset defects to subtle abnormalities diagnosed in elderly patients. ...More extensive and functional s …
BACKGROUND: X-linked juvenile retinoschisis (LRS) is an X-linked vitreoretinal degenerative disease that consists of variable …
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Kim DY, Mukai S. Kim DY, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. Semin Ophthalmol. 2013. PMID: 24138048 Review.
X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males. ...
X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal …
Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.
Apaolaza PS, Del Pozo-Rodríguez A, Torrecilla J, Rodríguez-Gascón A, Rodríguez JM, Friedrich U, Weber BH, Solinís MA. Apaolaza PS, et al. J Control Release. 2015 Nov 10;217:273-83. doi: 10.1016/j.jconrel.2015.09.033. Epub 2015 Sep 21. J Control Release. 2015. PMID: 26400864
X-linked juvenile retinoschisis (XLRS), which results from mutations in the gene RS1 that encodes the protein retinoschisin, is a retinal degenerative disease affecting between 1/5000 and 1/25,000 people worldwide. ...This work shows for the first time a successful …
X-linked juvenile retinoschisis (XLRS), which results from mutations in the gene RS1 that encodes the protein retinoschisin, i …
Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis.
Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB. Verbakel SK, et al. Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. Invest Ophthalmol Vis Sci. 2016. PMID: 27699410
PURPOSE: Little is known regarding the therapeutic effect of carbonic anhydrase inhibitors (CAIs) in the management of cystic macular lesions in children with X-linked juvenile retinoschisis (XLRS) despite the fact that this disease often manifests during chi …
PURPOSE: Little is known regarding the therapeutic effect of carbonic anhydrase inhibitors (CAIs) in the management of cystic macular …
Negative electroretinogram in the differential diagnosis of malingering of night blindness in the military.
Sobaci G, Erdem U, Uysal Y, Gundogan FC, Bayraktar MZ. Sobaci G, et al. Mil Med. 2007 Apr;172(4):402-4. doi: 10.7205/milmed.172.4.402. Mil Med. 2007. PMID: 17484312
The diagnoses were congenital stationary night blindness (CSNB) (14 patients), X-linked juvenile retinoschisis (five patients), and muscular dystrophy (one patient). ...
The diagnoses were congenital stationary night blindness (CSNB) (14 patients), X-linked juvenile retinoschisis (five patients) …