A novel mutation of BEST1 gene in Best disease

Abstract

Purpose To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy. Methods A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing. Results A diagnosis of a Best vitelliform macular dystrophy was made. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found. Conclusion These findings contribute to expand the mutation spectrum of BEST1 gene.