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Article

PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.

American journal of ophthalmology - 1 Mar 2025

AlAshwal Shadi M, Yassin Shaden H, Kalaw Fritz Gerald P, Borooah Shyamanga

Abstract excerpt

PURPOSE: PRPH2-associated retinal diseases (PARD) result from pathogenic PRPH2 variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium. The focus of this article is to review and discuss the phenotyping of PARD subtypes. DESIGN: A systematic review. METHODS: The review followed PRISMA 2020 guidelines with searches on PubMed, Medline, Web of Science, Google Scholar, and Cochrane...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39515456
DOI: 10.1016/j.ajo.2024.10.025

Genes

PRPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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