CEP290 and Leber congenital amaurosis: However, genetic testing is critical to confirm the specific diagnosis and is key towards the administration of genotype-specific treatment, inclusion in clinical trials, prognostication, as well as for family planning and tailored screening of systemic conditions.4 LCA can be an isolated eye condition or part of a syndrome, such as Senior Loken or Joubert syndrome.5 6 Moreover, it is genetically heterogeneous and can be caused by variants in at least 25 genes such as RPE65, GUCY2D, NMNAT1, CEP290, AIPL1, and RDH12.