TP53 mutation was significantly associated with MYCN amplification (p=0·022) and LCA pathology (p=0·0033), MYCN amplification was associated with LCA pathology (p<0·0001), and LCA pathology and MYCN amplification were never observed with TERT mutations (p=0·00079 for LCA and p=0·0090 for MYCN amplification). Here, MYCN is linked to Leber congenital amaurosis.