Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant

PURPOSE: Occult Macular Dystrophy (OMD) is an autosomal dominant inherited retinal dystrophy caused by mutations in the retinitis pigmentosa 1-like 1 (RP1L1) gene. The present study describes a novel RP1L1 variant, identified for the first time in two Italian sisters diagnosed with OMD, along with m...

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Detalles Bibliográficos
Autores principales: Bianco, Lorenzo, Arrigo, Alessandro, Antropoli, Alessio, Carrera, Paola, Spiga, Ivana, Patricelli, Maria Grazia, Bandello, Francesco, Battaglia Parodi, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Image
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9058645/
https://www.ncbi.nlm.nih.gov/pubmed/35509282
http://dx.doi.org/10.1016/j.ajoc.2022.101550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9058645/
https://www.ncbi.nlm.nih.gov/pubmed/35509282
http://dx.doi.org/10.1016/j.ajoc.2022.101550

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