Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

ABSTRACT:

Importance

Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited.

Objective

To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1.

Design, setting, and participants

This retrospective case series took place at the Oxford Eye Hospital in Oxford, UK. Thirty-six patients from a single center with disease-causing sequence variations in BEST1 from 25 different families were analyzed. Data were collected from November 2017 to June 2018, and analysis began April 2018.

Main outcomes and measures

Results of ocular phenotyping and genetic testing using targeted next-generation sequencing to identify BEST

SUBMITTER: Shah M 

PROVIDER: S-EPMC7118667 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature