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Article

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

PloS one - 1 Jan 2018

Sudha Dhandayuthapani, Neriyanuri Srividya, Sachidanandam Ramya, Natarajan Srikrupa N, Gandra Mamatha, Tharigopala Arokiasamy, Sivashanmugam Muthukumaran, Alameen Mohammed, Vetrivel Umashankar, Gopal Lingam, Khetan Vikas, Raman Rajiv, Sen Parveen, Chidambaram Subbulakshmi, Arunachalam Jayamuruga Pandian

Abstract excerpt

X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing. Retinoschisin (RS1) is an adhesive protein which is secreted predominantly by the photoreceptors and bipolar cells as a double-octameric complex. In general, XLRS patients show wide clinical heterogeneity, presenting practical...

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PMID: 29851975
DOI: 10.1371/journal.pone.0198086
PMCID: PMC5978886

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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