The finding that BEST1 transcripts and protein are more abundant in the periphery12, an area where the initial pigmentary defects are observed in young (<10 years old) ADVIRC patients2, 37, could imply a mechanism by which the increased presence of mislocalised BEST1 in the peripheral area contributes to the distinct ADVIRC pathology and the developmental abnormalities. This evidence concerns the gene BEST1 and autosomal dominant vitreoretinochoroidopathy.