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LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Retinal cases & brief reports - 1 Jan 2000

Perez-Roustit Sarah, Marquette Virginie, Bocquet Béatrice, Kaplan Josseline, Perrault Isabelle, Meunier Isabelle, Hamel Christian P

Abstract excerpt

PURPOSE: To describe a patient with mutations in KCNJ13 presenting particular clinical features. METHODS: Standard ophthalmic examination, fundus autofluorescence, spectral domain optical coherence tomography, full-field electroretinography. The 3 exons of KCNJ13 were polymerase chain reaction amplified and Sanger sequenced. PATIENTS: A 31-year-old man with Leber congenital amaurosis. RESULTS: Patient had...

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Source

Identifiers

PMID: 27203561
DOI: 10.1097/ICB.0000000000000326

Genes

KCNJ13

Variants

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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