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RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy

PURPOSE: To report a case of Pigmented Paravenous Chorioretinal Atrophy (PPCRA) associated with a novel RPGRIP1 dominant variant. METHODS: Case report. The patient underwent multimodal retinal imaging, including spectral-domain optical coherence tomography (OCT), OCT Angiography (OCTA), blue-light a...

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Detalles Bibliográficos
Autores principales: Bianco, Lorenzo, Antropoli, Alessio, Arrigo, Alessandro, Saladino, Andrea, Berni, Alessandro, Bandello, Francesco, Mansour, Ahmad M, Parodi, Maurizio Battaglia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10590017/
https://www.ncbi.nlm.nih.gov/pubmed/36755384
http://dx.doi.org/10.1177/11206721231155042