X-linked Juvenile Retinoschisis.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_10
Abstract: X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated… read more here.
Keywords: juvenile retinoschisis; linked juvenile; biology;
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2016.0257
Abstract: AIMS X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions.… read more here.
Keywords: family; linked juvenile; rs1 gene; gene ... See more keywords
The X‐linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen‐activated protein kinase signalling and apoptosis in the retina
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13019
Abstract: X‐linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy in young males, caused by mutations in the RS1 gene. The function of the encoded protein, termed retinoschisin, and the molecular mechanisms underlying XLRS pathogenesis are… read more here.
Keywords: apoptosis; kinase; kinase signalling; linked juvenile ... See more keywords
X-linked Juvenile Retinoschisis in a Young Female.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Nepal Health Research Council"
DOI: 10.33314/jnhrc.v20i01.3757
Abstract: X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors. 18-year female presented with bilateral blurred vision for… read more here.
Keywords: juvenile retinoschisis; anhydrase inhibitors; carbonic anhydrase; retinoschisis young ... See more keywords
Phenotype Heterogeneity and the Association Between Visual Acuity and Outer Retinal Structure in a Cohort of Chinese X-Linked Juvenile Retinoschisis Patients
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.832814
Abstract: Purpose: X-linked juvenile retinoschisis (XLRS), caused by mutations in the RS1 gene, is an X-linked recessive inherited disease that typically involves both eyes in the first 2 decades of life. Recently, the phenotype heterogeneity of… read more here.
Keywords: phenotype heterogeneity; juvenile retinoschisis; linked juvenile; visual acuity ... See more keywords