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Article

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.

Scientific reports - 7 Mar 2019

Toms Maria, Burgoyne Thomas, Tracey-White Dhani, Richardson Rose, Dubis Adam M, Webster Andrew R, Futter Clare, Moosajee Mariya

Abstract excerpt

Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We examined the retina of kcnj13 mutant zebrafish (obelixtd15, c.502T > C p.[Phe168Leu]) to provide new insights into the pathophysiology underlying these conditions. Detailed phenotyping of obelixtd15 fish revealed a late onset retinal degeneration at 12 months. Electron...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 30846767
DOI: 10.1038/s41598-019-40507-8
PMCID: PMC6405871

Genes

KCNJ13
RPE

Provenance

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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