Joubert Syndrome With Oculorenal Defect

A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

Epidemiology

Prevalence is unknown.

Clinical description

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.

Etiology

About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner.