Joubert Syndrome Associated with Leber's Congenital Amaurosis

ABSTRACT

PURPOSE: To report a case of Joubert syndrome associated with Leber's congenital amaurosis. CASE SUMMARY: A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not fixate with his eyes or follow objects. Nystagmus in both eyes and moderate angle esotropia were present. Slit lamp examination and fundus examination showed no significant findings. Visual evoked potential and electroretinogram were extinguished in both eyes. The patient showed abnormal respiratory patterns, developmental delay, and hypotonia. Brain MRI showed aplasia of the cerebellar vermis, and he was diagnosed with Joubert syndrome. At 2 years of age, he was moderately able to fixate with his eyes and to crudely follow objects. Nystagmus and esotropia had diminished, but the visual evoked potential and electroretinogram still showed no response in both eyes. CONCLUSIONS: Leber's congenital amaurosis can be associated with Joubert syndrome, and children with Leber's congenital amaurosis should be evaluated for associated systemic abnormalities.