A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.

ABSTRACT:

Background

The availability and reduced cost of genotyping has improved gene susceptibility testing and our scientific understanding of disease pathophysiology. Whilst several personalised translational models exist within medical frameworks, genetic-based surgical therapy is a translational application not widely used in surgical specialties.

Method

We present a clinical series of five patients with genetically confirmed bestrophinopathy and malignant glaucoma (MG). Patients were followed up for 12 months or more after receiving surgical intervention to manage refractory intraocular pressure (IOP) resistant to medical treatment.

Findings

Patients with BEST1 gene mutations are at higher risk of MG after filtration surgery. A multi-disciplinary approach after four pati

SUBMITTER: Low S 

PROVIDER: S-EPMC7042240 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature