Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.

doi:10.1055/a-1901-1011

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Article

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.

Klinische Monatsblatter fur Augenheilkunde - 1 Dec 2022

Waibel Andrea Magdalena, Stoye Johanna Mirjam, Villavicencio-Lorini Pablo, Hoffmann Katrin, Obermaier Carolin, Biskup Saskia, Grünauer-Kloevekorn Claudia

Abstract excerpt

X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in the RS1 gene. It usually manifests itself at a young age with symmetrical splitting within different layers of the retina and leads to a significant reduction in visual acuity. Correct diagnosis at older ages is difficult due to nonspecific changes in OCT scans. We report the morphological changes in OCT scans...

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PMID: 36493766
DOI: 10.1055/a-1901-1011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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