We identified a ClinVar pathogenic CEP290 frameshift variant (NM_025114.4:c.5434_5435del, NP_079390.3:p.Glu1812LysfsTer5) and a deep intronic CEP290 variant known to cause a strong splice-donor site and insertion of a cryptic exon (NM_025114.4:c.2991+1655A>G).34 Participant #62 had one CEP290-related key clinical feature from the ophthalmic system category (keratoconus), permitting us to report the finding. Here, CEP290 is linked to keratoconus.