Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

• Principais autores: Kirk Stephenson (Autor), Adrian Dockery (Autor), Niamh Wynne (Autor), Matthew Carrigan (Autor), Paul Kenna (Autor), G. Jane Farrar (Autor), David Keegan (Autor)
• Formato: Livro
• Publicado em: BMC, 2018-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal imaging. Methods The Irish National...