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Article

A novel phenotype associated with the R162W variant in the KCNJ13 gene.

Ophthalmic genetics - 1 Aug 2022

Schroeder Marion, Peter Virginie G, Gränse Lotta, Andréasson Sten, Rivolta Carlo, Kjellström Ulrika

Abstract excerpt

BACKGROUND: Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae. Reduced dark...

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PMID: 35477418
DOI: 10.1080/13816810.2022.2068041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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