We report non-syndromic IRD patients from ten families and two mildly syndromic JBTS cases with rare variants in INPP5E. Pathogenic variants in INPP5E are mainly known to cause systemic disorders, JBTS10 and MORM9, characterized by severe neurological manifestations and extra-neurological symptoms which may differ both quantitatively and qualitatively in each affected individual, even within the same family10,12,16,21,34. Here, INPP5E is linked to Joubert syndrome.