Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

PRPH2 gene mutations are frequently found in inherited retinal dystrophies (IRD) and are associated with a wide spectrum of clinical phenotypes. We studied 28 subjects affected by IRD carrying pathogenic PRPH2 mutations, belonging to 11 unrelated families. Functional tests (best-corrected visual acu...

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Detalles Bibliográficos
Autores principales: Antonelli, Giulio, Parravano, Mariacristina, Barbano, Lucilla, Costanzo, Eliana, Bertelli, Matteo, Medori, Maria Chiara, Parisi, Vincenzo, Ziccardi, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406607/
https://www.ncbi.nlm.nih.gov/pubmed/36010202
http://dx.doi.org/10.3390/diagnostics12081851

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406607/
https://www.ncbi.nlm.nih.gov/pubmed/36010202
http://dx.doi.org/10.3390/diagnostics12081851

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