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Article

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

Investigative ophthalmology & visual science - 29 May 2014

van Huet Ramon A C, Collin Rob W J, Siemiatkowska Anna M, Klaver Caroline C W, Hoyng Carel B, Simonelli Francesca, Khan Muhammad I, Qamar Raheel, Banin Eyal, Cremers Frans P M, Theelen Thomas, den Hollander Anneke I, van den Born L Ingeborgh, Klevering B Jeroen

Abstract excerpt

PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2. METHODS: This international collaborative study includes 17 RP patients with inherited retinal disease caused by mutations in IMPG2. The patients were clinically (re-)examined, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, perimetry, ERG, optical coherence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24876279
DOI: 10.1167/iovs.14-14129

Genes

IMPG2
ERG

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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