Minimal Ocular Findings in a Patient with Best Disease Caused by the c.653G>A Mutation in BEST1

Abstract

Here we report for the first time a phenotype-genotype correlation in a Czech patient with Best disease. SD-OCT is a fast method that may show the presence of small pathological changes.

The screening of BEST1 gene enables identification of disease-causing variants in asymptomatic individuals with normal fundus appearance and thus improves counseling to the affected families.

Keywords

• Best disorder
• BEST1
• mutation
• optic coherence tomography
• phenotype