An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

ABSTRACT:

Purpose

To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA).

Design

Retrospective cohort study.

Methods

97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All patients were sent for NGS including a 22 nuclear gene panel and/or complete mitochondrial DNA (mtDNA) sequencing. Positive genetic test results and abnormal vibration sensation were compared in patients +/- environmental exposures or a family history.

Results

19/94 (20.2%) had a positive nuclear variant, of which 15/19 (78.9%) were in the OPA1 gene. No positive mtDNA variants were identified. The detection of a positive genetic variant was significantly different in pa

SUBMITTER: Chen AT 

PROVIDER: S-EPMC6876833 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature