Ocular and systemic manifestations of Joubert syndrome: A case report

Joubert syndrome (JS) is a group of rare disorders that stem from defects in sensory organelle, the primary cilia. Affected patients often present with disorders affecting multiple systems, including the brain, eye, and kidneys. Oculomotor apraxia is the most frequent ocular manifestation (80%), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with diagnostic “molar tooth” sign observed by magnetic resonance imaging of the midbrain. Hepatic and renal function need to be monitored. Delayed diagnosis is usually related to its variable, nonspecific presentation. Awareness of the characteristic clinical and radiological findings in JS will help in early diagnosis, appropriate counseling, and proper rehabilitation.