Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.

Giorgio Placidi,Paolo Enrico Maltese,Maria Cristina Savastano,Elena D'Agostino,Valentina Cestrone,Matteo Bertelli,Pietro Chiurazzi,Martina Maceroni,Angelo Maria Minnella,Lucia Ziccardi,Vincenzo Parisi, Stanislao Rizzo,Benedetto Falsini

Diagnostics (Basel, Switzerland)（2023）

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摘要

In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the RPE/photoreceptor atrophy. These correlations may be relevant in view of therapeutic interventions aimed at rescuing rods and cones in EYS-retinopathy.

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关键词

EYS gene,OCT,disease staging,electroretinography,multimodal imaging,retinal degeneration,subretinal illumination

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