Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of ...
Paulo Rodolfo Tagliari Barbisan +1 more
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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 +2 more sources
Bilateral macular holes in X-linked retinoschisis: Now the spectrum is wider
Indian Journal of Ophthalmology, 2011 Bilateral occurrence of macular hole in X-linked retinoschisis is an extremely rare event. Spectral domain optical coherence tomography (OCT) findings revealed that formation of a macular hole is secondary to the retinoschisis process alone.
Manoj Gautam +2 more
doaj +2 more sources
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 +4 more
doaj +3 more sources
Genetic testing for X-linked juvenile retinoschisis
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in
Abeshi Andi +5 more
doaj +2 more sources
En face swept-source optical coherence tomographic analysis of X-linked juvenile retinoschisis
American Journal of Ophthalmology Case Reports, 2016 Purpose: To clarify the area of retinoschisis by X-linked juvenile retinoschisis (XLRS) using swept-source optical coherence tomography (SS-OCT) en face images. Observations: We report two cases of XLRS in the same family.
Shinji Ono +4 more
doaj +2 more sources
Retinal vasproliferative tumor in a case of X-linked retinoschisis detachment
American Journal of Ophthalmology Case Reports, 2018 Purpose: To describe the first published case of X-linked retinoschisis (XLRS) detachment with retinal vasoproliferative tumor (RVPT) and provide a literature review of the subject.
Nimesh A. Patel +5 more
doaj +3 more sources
Randomised Clinical Trial to Evaluate the Efficacy of Acetazolamide for the Treatment of Cystoid Fluid Collections in X-Linked Retinoschisis: The AXIS Trial. [PDF]
Clin Exp OphthalmolABSTRACT Background This trial aimed to evaluate the efficacy of oral acetazolamide in reducing cystoid fluid collections (CFC) and improving visual function in patients with X‐linked retinoschisis (XLRS). Methods In this investigator‐initiated, single centre, open‐label, randomised controlled trial, XLRS patients aged ≥ 12 years with fovea‐involving ...
Hensman J +15 more
europepmc +2 more sources
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis. [PDF]
Acta OphthalmolAbstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Hensman J +11 more
europepmc +2 more sources