Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy

Background. Eyes shut homolog (EYS) gene mutations are estimated to affect at least 5% of patients with autosomal recessive retinitis pigmentosa. Since there is no mammalian model of human EYS disease, it is important to investigate its age-related changes and the degree of central retinal impairmen...

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Detalles Bibliográficos
Autores principales: Placidi, Giorgio, Maltese, Paolo Enrico, Savastano, Maria Cristina, D’Agostino, Elena, Cestrone, Valentina, Bertelli, Matteo, Chiurazzi, Pietro, Maceroni, Martina, Minnella, Angelo Maria, Ziccardi, Lucia, Parisi, Vincenzo, Rizzo, Stanislao, Falsini, Benedetto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000790/
https://www.ncbi.nlm.nih.gov/pubmed/36899994
http://dx.doi.org/10.3390/diagnostics13050850

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10000790/
https://www.ncbi.nlm.nih.gov/pubmed/36899994
http://dx.doi.org/10.3390/diagnostics13050850

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