J Korean Ophthalmol Soc.  2008 Aug;49(8):1360-1363. 10.3341/jkos.2008.49.8.1360.

Joubert Syndrome Associated with Leber's Congenital Amaurosis

• Yang HK
• Yu YS
• Hwang JM

• KMID: 2211746
• DOI: http://doi.org/10.3341/jkos.2008.49.8.1360

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.

Keyword

Cerebellar vermis aplasia; Joubert syndrome; Leber's congenital amaurosis

MeSH Terms

Blindness
Brain
Cerebellar Diseases
Child
Esotropia
Evoked Potentials, Visual
Eye
Eye Abnormalities
Humans
Infant
Kidney Diseases, Cystic
Muscle Hypotonia
Parturition
Retina
Spinocerebellar Degenerations
Cerebellar Diseases
Eye Abnormalities
Kidney Diseases, Cystic
Retina
Spinocerebellar Degenerations

Figure

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  Figure 1. Visual evoked potentials were extinguished in both eyes.

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  Figure 2. Electroretinogram showed no reponse in both eyes.

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  Figure 3. The classic ”molar tooth sign” of Joubert syndrome is shown in the T1-weighted transverse MRI image. Note the thickened superior cerebellar peduncles (indicated by the white arrows) that do not decussate, so the isthmus is reduced, causing the interpeduncular fossa (black arrow) to be enlarged.

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  Figure 4. T1-weighted sagittal MRI image shows aplasia of the cerebellar vermis and enlarged mid-fourth ventricle (white arrow).

Reference

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