Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.
Susmita ChowdhuryRoopam DuveshManojkumar KumaranRupa AnjanamurthyJayant KumarAyyasamy VanniarajanBharanidharan DevarajanPeriasamy SundaresanPublished in: Ophthalmic genetics (2021)
Our study demonstrates the utility of WES and clinical re-evaluations in establishing the precise diagnosis of autosomal recessive bestrophinopathy associated with a novel mutation, thus expanding the BEST1-related mutation spectrum.