[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1]

To describe the phenotype in an asymptomatic 64-year-old patient with family history of Best disease and to identify the disease causing variant in the BEST1 gene.

Detailed ocular examination of the proband including spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography and electrooculography was performed. Direct sequencing approach was used to screen the whole coding sequence of 11 exons of BEST1.

An early vitelliform stage of Best disease presenting as a small yellowish spot in the macula was observed in the right eye. The fundus appearance in the left eye was normal. SD-OCT of the right macula revealed hypodense space between the retinal pigment epithelium and the neuroretinal layer. Arden ratio was bilaterally mildly reduced; 1.36 in the right and 1.3 in the left eye. Molecular genetic analysis identified a heterozygous change c.653G>A (p.Arg218His) as the disease-causing variant.

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.