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

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 Registry for Inherited Retinal Degenerations (Target 5000) is a program including clinical history and examination with multimodal retinal imaging, electrophysiology, visual field testing and genetic analysis. Nine affected patients were identified across 3 generations of an XLRS1 pedigree. DNA sequencing was performed for each patient, one carrier female and one unaffected relative. Pedigree mapping revealed a further 4 affected males.

Results

All affected patients had a history of

SUBMITTER: Stephenson K 

PROVIDER: S-EPMC6233547 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature