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Article

Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.

PloS one - 1 Jan 2013

Pattnaik Bikash R, Tokarz Sara, Asuma Matti P, Schroeder Tyler, Sharma Anil, Mitchell Julie C, Edwards Albert O, Pillers De-Ann M

Abstract excerpt

Snowflake Vitreoretinal Degeneration (SVD) is associated with the R162W mutation of the Kir7.1 inwardly-rectifying potassium channel. Kir7.1 is found at the apical membrane of Retinal Pigment Epithelial (RPE) cells, adjacent to the photoreceptor neurons. The SVD phenotype ranges from RPE degenera...

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Source

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Identifiers

PMID: 23977131
DOI: 10.1371/journal.pone.0071744
PMCID: PMC3747230

Genes

RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23977131-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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