Fundus phenotype in retinitis pigmentosa associated with EYS mutations.

Dario Pasquale MuccioloAndrea SodiIlaria PasseriniVittoria MurroFrancesca CipolliniIsabella BorgElisabetta PeloElisa ContiniGianni VirgiliStanislao Rizzo

Published in: Ophthalmic genetics (2018)

we reported the mutation spectrum of a group of EYS-related RP patients including nine novel mutations and the associated clinical phenotypes. Our series is the largest group of EYS-related arRP patients in the Italian population.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported outcomes
diabetic retinopathy
patient reported