High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

ABSTRACT:

Purpose

To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting.

Design

Evaluation of a diagnostic protocol.

Methods

setting: Patient participants were enrolled during clinical appointments in a university-based ophthalmic genetics clinic.

Patient population

Twenty-six patients with a variety of presumed hereditary retinal dystrophies.

Intervention

Participants were offered whole exome sequencing in addition to clinically available sequencing gene panels between July 2012 and January 2013 to determine the molecular etiology of their retinal dystrophy.

Main outcome measures

Diagnostic yield and acceptability of whole exome sequencing in patients with retinal disorders.

Re

SUBMITTER: Lee K 

PROVIDER: S-EPMC4506879 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature