Results 51 to 60 of about 189,868 (219)

A Rare Case of Juvenile X-Linked Retinoschisis

Acta Medica Bulgarica, 2021
Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically.
Mermeklieva E., Vasileva P.
doaj   +1 more source

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins [PDF]

, 2017
BACKGROUND: X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000.
Andrea Sodi, Dario Pasquale Mucciolo, Giacomo Maria Bacci, Gianni Virgili, Roberto Caputo, Sabrina Rita Giglio, Sara Bargiacchi, Stanislao Rizzo, Vittoria Murro   +8 more
core   +1 more source

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

Stem Cell Research, 2020
X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene.
Shengru Mao, Chengcheng Ding, Yalan Zhou, Yutong Jing, Juan Chen, Yonglong Guo, Jian Liu, Zekai Cui, Xin Yan, Jianing Gu, Yini Wang, Jiansu Chen, Shibo Tang   +12 more
doaj   +1 more source

X-linked juvenile retinoschisis: phenotypic and genetic characterization [PDF]

International Journal of Ophthalmology, 2018
Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population.
Rasa Strupaitė, Laima Ambrozaitytė, Loreta Cimbalistienė, Rimvydas Ašoklis, Algirdas Utkus   +4 more
doaj   +1 more source

Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family [PDF]

, 2016
BACKGROUND: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first
CUCCU, ALBERTO, FARCI, ROBERTA, FOSSARELLO, MAURIZIO, GALANTUOMO, MARIA SILVANA, Lorenz, B, NAPOLI, PIETRO EMANUELE, Preising, MN   +6 more
core   +2 more sources

Structural analysis of X-Linked Retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function [PDF]

, 2016
Retinoschisin, an octameric retinal-specific protein, is essential for retinal architecture with mutations causing X-linked retinoschisis (XLRS), a monogenic form of macular degeneration.
Alan M. Roseman, Bush, C. Alistair Siebert, Clair Baldock, Ewan P. Ramsay, Gleghorn, Kucukelbir, Rawson, Reid, Richard F. Collins, Richard P.O. Jones, Tao Wang, Thomas W. Owens   +12 more
core   +1 more source

X-linked juvenile retinoschisis [PDF]

Revista Brasileira de Oftalmologia, 2015
Report the case of a male 28 years-old patient, who was referred to Centro de Estudos e Pesquisas Oculistas Associados – RJ, to retina assessment and presented the tipical findings of the X-Linked Juvenile Retinoschisis: A cystoid maculopathy with formation of foveal cysts and schisis of the peripheral retina.
Cesar Gomes da Silveira, Gabriela Hertz Soares, Jacqueline Provenzano   +2 more
openaire   +2 more sources

Efficacy of carbonic anhydrase inhibitors on cystoid fluid collections and visual acuity in patients with X-linked retinoschisis.

Ophthalmology Retina, 2023
PURPOSE To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAI) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAI on visual acuity and cystoid fluid collections (CFC ...
John A. Hensman, Leo C. Hahn, M. V. van Schooneveld, R. Diederen, J. T. ten Brink, R. Florijn, A. Bergen, Ine Strubbe, P. Heutinck, M. V. van Genderen, L. Ingeborgh van den Born, A. Thiadens, J. de Zaeytijd, Bart P. Leroy, C. Hoyng, C. Boon   +15 more
semanticscholar   +1 more source

X-linked Retinoschisis

Güncel Retina Dergisi (Current Retina Journal), 2021
X-linked retinoschisis (XLRS) is a degenerative retinal disease, often affecting men, characterized by progressive dissociation in the inner layers of the retina with negative electroretinography (ERG). In this review, the clinical presentation of the disease, diagnostic tests, the pathophysiology of the disease, treatment options to date, and ...
openaire   +1 more source

Immune function in X-linked retinoschisis (XLRS) subjects in an AAV8-RS1 Phase I/IIa gene therapy trial.

Molecular Therapy, 2021
This study explored systemic immune changes in 11 subjects with X-linked retinoschisis (XLRS) in a Phase I/IIa AAV8-RS1 gene therapy trial (www.ClinicalTrials.gov NCT02317887).
Alaknanda Mishra, C. Vijayasarathy, C. Cukras, H. Wiley, H. Sen, Yong Zeng, L. Wei, P. Sieving   +7 more
semanticscholar   +1 more source