Optic disc drusen mimicking papilledema in an infant with Joubert syndrome

Area of Science:

• Neuroscience
• Ophthalmology
• Genetics

Background:

• Joubert Syndrome is a rare autosomal recessive genetic disorder.
• It is characterized by cerebellar vermis hypoplasia and brainstem malformations.
• Ocular and oculomotor abnormalities are common in Joubert Syndrome.

Observation:

• This report details an infant diagnosed with Joubert Syndrome.
• The infant presented with papilledema, a sign of increased intracranial pressure.
• Optic disc drusen were identified during ophthalmic examination.

Findings:

• Joubert Syndrome is typically associated with cerebellar and brainstem abnormalities.
• Optic disc drusen are calcific deposits within the optic nerve head.
• This infant case demonstrates optic disc drusen in Joubert Syndrome, a rare occurrence, especially in infants.

Implications:

• The findings suggest a potential, though infrequent, association between Joubert Syndrome and optic disc drusen.
• Early diagnosis of optic disc drusen is crucial for managing potential vision complications.
• Further research is needed to understand the spectrum of ocular manifestations in Joubert Syndrome.