Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.

ABSTRACT:

Importance

SNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.

Objective

To describe the retinal phenotype in patients with RP secondary to variants in SNRNP200.

Design, setting, and participants

This retrospective, case-series study was performed at 2 tertiary referral centers for inherited retinal diseases. Participants included 9 consecutive patients from 8 families with RP attributed to variants in SNRNP200. Data were collected from August 2017 to March 2018 and analyzed from May to July 2018.

Main outcomes and measures

Results of clinical evaluation, multimodal retinal imaging, and molecular genetic testing using targeted next-generation sequen

SUBMITTER: Yusuf IH 

PROVIDER: S-EPMC6735424 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature