Article

Genotype-Phenotype of Patients with PRPH2-Associated Retinal Dystrophy: Novel Insights on Foveal Structure and Visual Outcomes

2026-02-13

Abstract excerpt

<title>Abstract</title> <p> Background <italic>PRPH2</italic> mutations cause diverse inherited retinal dystrophies (IRDs) with unclear genotype-phenotype correlations. This study aims to elucidate these correlations and characterize associated foveal structural characteristics using multimodal imaging. Methods In this retrospective case series, 34 patients (31 families) with confirmed <italic>PRPH2</italic>...

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Literature Corpus work: d892a538-8ab8-55a6-ba71-c672a64923bd
DOI: 10.21203/rs.3.rs-8587127/v1

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