Acta ophthalmologica۲۰۲۶نمایه شده در PubMed
Rachael C Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A Curcio, Svetlana Cherepanoff, Tina M Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C B Wong, Petra Liskova, Fred K Chen
چکیده
To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina. International multicentre observational…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1111/aos.70178