Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

URN to cite this document:: urn:nbn:de:bvb:355-epub-355431
DOI to cite this document:: 10.5283/epub.35543

Weber, Bernhard H. F.

; Schrewe, H. ; Molday, L. L. ; Gehrig, A. ; White, K. L. ; Seeliger, M. W. ; Jaissle, G. B. ; Friedburg, C. ; Tamm, Ernst R.

; Molday, R. S.

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Date of publication of this fulltext: 11 Apr 2017 11:47

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Abstract

Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males. The disorder is characterized by a negative electroretinogram pattern and by a splitting of the inner retina. To gain further insight into the function of the retinoschisin protein and its role in the cellular pathology of RS, we have ...