Investigative ophthalmology & visual science۲۰۲۵مطالعه مشاهده اینمایه شده در PubMed
Alessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, Amine Benadji, Christel Condroyer, Aline Antonio, Julien Navarro, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
چکیده
Pathogenic variants in RP1L1 are associated with autosomal dominant occult macular dystrophy (OMD) and autosomal recessive retinitis pigmentosa (RP). In this study, we investigated the phenotypic and genotypic landscape of RP1L1-associated retinopathy in an ethnically heterogeneous cohort. This…
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DOI: 10.1167/iovs.66.4.7