Six genes (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1) have been implicated in this condition5,14–19, with two causing distinctive retinal phenotypes leading to different clinical classification: CRB1 is associated with Leber congenital amaurosis, early onset retinal dystrophy, retinitis pigmentosa, and maculopathies20,21. The gene discussed is BEST1; the disease is Leber congenital amaurosis.