August 29, 2024Open Access

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

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Key points are not available for this paper at this time.

Abstract

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.

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Authors

Pam A T Heutinck

Erasmus MC

L. Ingeborgh van den Born

Rotterdam Eye Hospital

Maikel Vermeer

Erasmus MC

Journals

Investigative Ophthalmology & Visual Science

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Institutions

University of Amsterdam

Radboud University Nijmegen

University of Groningen

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Heutinck et al. (Thu,) studied this question.

synapsesocial.com/papers/68e5a5f5b6db64358754034a — DOI: https://doi.org/10.1167/iovs.65.10.40

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Also consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study· 2021 · 75 citations
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Untitled· 2021 · 12 citations
Achromatopsia: Long term visual performance and clinical characteristics· 2023 · 5 citations
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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium

Key Points

Abstract

Citation Network

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Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

Cite this study

Also consider

Also consider