Ciliome resequencing: A lifeline for molecular diagnosis in LCA

Aims Leber congenital amaurosis (LCA) is the earliest and most severe retinal dystrophy. It occurs as non-syndromic or syndromic. 26/37 LCA genes are important to ciliary function and account for < 1/3 of cases. These cases developor are at risk to developskeletal, renal and/or neurologic symptoms. Here, we assessed efficiency of ciliome resequencing (CR) as a tool for molecular diagnosis and patient care.