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
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