Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

doi:10.1167/iovs.65.10.40

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Article

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Investigative ophthalmology & visual science - 1 Aug 2024

Heutinck Pam A T, van den Born L Ingeborgh, Vermeer Maikel, Iglesias Gonzales Adriana I, Hoyng Carel B, Pott Jan Willem R, Kroes Hester Y, van Schooneveld Mary J, Boon Camiel J F, van Genderen Maria M, Plomp Astrid S, de Jong-Hesse Yvonne, van Egmond-Ebbeling Michelle B, Hoefsloot Lies H, A Bergen Arthur, Klaver Caroline C W, Meester-Smoor Magda A, Thiadens Alberta A H J, Verhoeven Virginie J M

Abstract excerpt

Purpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in children. This study investigated the frequency of these in pediatric IRD with the aim of highlighting relevant groups for future therapy. Methods: Diagnostic, genetic, and demographic data,...

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Identifiers

PMID: 39189993
DOI: 10.1167/iovs.65.10.40
PMCID: PMC11361385

Genes

CEP290
RS1
CNGB3
CRB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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