Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

PURPOSE: Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients w...

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Detalles Bibliográficos
Autores principales: Sarosiak, Anna, Udziela, Monika, Ścieżyńska, Aneta, Oziębło, Dominika, Wawrzynowska, Anna, Szaflik, Jacek P., Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208719/
https://www.ncbi.nlm.nih.gov/pubmed/30084067
http://dx.doi.org/10.1007/s00417-018-4075-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208719/
https://www.ncbi.nlm.nih.gov/pubmed/30084067
http://dx.doi.org/10.1007/s00417-018-4075-9

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