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Article

A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Ophthalmic genetics - 1 Mar 2015

Khan Arif O, Bergmann Carsten, Neuhaus Christine, Bolz Hanno J

Abstract excerpt

PURPOSE: To document a distinct vitreo-retinal dystrophy with early-onset cataract as related to recessive KCNJ13 mutations. METHODS: A retrospective case series (two patients from two families) Results: A 12-year-old Saudi Arabian girl with nystagmus since birth was referred because of recent decreased vision. Parents were first cousins and a younger sister had been diagnosed with retinal dystrophy. Examination...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25475713
DOI: 10.3109/13816810.2014.985846

Genes

KCNJ13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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