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

• Váldodahkkit: Kirk Stephenson (Dahkki), Adrian Dockery (Dahkki), Niamh Wynne (Dahkki), Matthew Carrigan (Dahkki), Paul Kenna (Dahkki), G. Jane Farrar (Dahkki), David Keegan (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2018-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...