Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

doi:10.1093/hmg/11.24.3097

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Article

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

Human molecular genetics - 15 Nov 2002

Wang Tao, Waters Caroline T, Rothman Alex M K, Jakins Tracy J, Römisch Karin, Trump Dorothy

Abstract excerpt

X-linked retinoschisis results in visual loss in early life with splitting within the inner retinal layers. Many missense and protein truncating mutations of the causative gene RS1 (encoding retinoschisin) have been identified but disease severity is not mutation-dependent. Retinoschisin is a soluble secretory protein predicted to have a globular conformation. Missense mutations would be expected to interfere...

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Identifiers

PMID: 12417531
DOI: 10.1093/hmg/11.24.3097

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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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