Since then, mutations in BEST1 have been found in association with at least four additional clinically distinct retinal degenerative diseases, namely autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy (AVMD), autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa4,5. The gene discussed is BEST1; the disease is autosomal recessive bestrophinopathy.