Abstract Purpose: To report a clinical phenotype and a novel VMD2 gene mutation in a Slovene family with Best vitelliform dystrophy. Methods: Father (51 yrs, VA: 0,1 ou) and his two sons (21 yrs, VA: 1,0 RE, 0,001LE; and 17 yrs, VA: 0,6 RE, 0,2 LE) with abnormal EOG and clinical features of Best distrophy were tested with static perimetry, pattern ERG and multifocal electroretinography. Autofluorescence imaging of the fundus was done by HRA. Screening for mutation was done by the non‐isotopic high resolution single stranded conformation analysis (SSCA) after amplification of each exon by the polymerase chain reaction (PCR). Primers for VMD2 were described by Petrukhin. Results: A new mutation was found with G to C substitution at position 147 in VMD2 gene, altering nonpolar glycine to a bigger and positively charged arginine at codon 15. The change altered electric balance of the mutated protein. Four other changes in these family were observed as well (P341P, T470T, T536T, S519S), but have already been described by other groups and presumably did not alter the predicted amino acid sequence of bestrophin protein. AF imaging showed different patterns in each patient according to the stage of disease ‐ central hiperfluorescent lesions in early stages and central hypofluorescent regions being surrounded with hyperfluorescent rings in later stages of the disease. Electrophysiology testing showed reduction of pattern P50 and N95 amplitudes in those with lower VA. Reduction of P1 amplitude of mfERG was mostly observed in the inner three concentric rings already in the early stages of disease. Conclusions: A novel disease‐causing mutation (G15R) was found in the exon 2 in VMD2 gene in a Slovene family with BVD.