Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.
Giorgio PlacidiPaolo Enrico MalteseMaria Cristina SavastanoElena D'AgostinoValentina CestroneMatteo BertelliPietro ChiurazziMartina MaceroniAngelo Maria MinnellaLucia ZiccardiVincenzo ParisiStanislao RizzoBenedetto FalsiniPublished in: Diagnostics (Basel, Switzerland) (2023)
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.