Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.
Prevalence is unknown.
Patients present retinal involvement (manifesting with either Leber congenital amaurosis (LCA, see this term), or progressive retinal dystrophy) and nephronophthisis (NPH, usually juvenile). Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life.
About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.
Last update: July 2011
- Dr Francesco BRANCATI
- Pr Bruno DALLAPICCOLA
- Pr Enza Maria VALENTE