Article
WDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype.
Ophthalmic genetics - 1 Jun 2025
Nunziata Annamaria, Antropoli Alessio, Bianco Lorenzo, Del Fabbro Sebastiano, Arrigo Alessandro, Doddato Gabriella, Carrera Paola, Bandello Francesco, Parodi Maurizio Battaglia
Abstract excerpt
BACKGROUND: Pathogenic variants in the WDR19 gene are linked to a spectrum of ciliopathies, which can present with ophthalmic symptoms. In this study, we describe the multimodal imaging findings of a patient with an adult-onset Stargardt-like phenotype associated with biallelic WDR19 variants. METHODS: The patient underwent a comprehensive ophthalmologic evaluation, including slit-lamp examination, optical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.