Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to...

Area of Science:

• Neuroscience
• Ophthalmology
• Genetics

Background:

• Joubert syndrome (JS) is a genetic disorder affecting brain development, often causing optic nerve abnormalities.
• Visual pathway function is critical for vision and can be assessed using visual evoked potential (VEP) recordings.

Purpose of the Study:

• To evaluate neural conduction in the visual pathways of Joubert syndrome patients using VEP.
• To determine if VEP can detect visual pathway dysfunction irrespective of optic nerve morphologic abnormalities (ONMA) in JS.

Main Methods:

• An observational, prospective study involving 18 children with JS and 17 healthy controls.
• Pattern VEPs were recorded using 60' and 15' checks to assess large and small axon function, respectively.
• JS patients were categorized into groups with (JS-A) and without (JS-N) ONMA.

Main Results:

• Both JS groups (JS-A and JS-N) exhibited significant VEP abnormalities compared to controls.
• Abnormalities in VEP implicit time and amplitude were observed in both large and small axons.
• In the JS-N group, 15' VEP implicit values correlated with visual acuity.

Conclusions:

• VEP can detect visual pathway dysfunction in JS patients, regardless of ONMA.
• These findings suggest VEP's utility in monitoring treatment efficacy for JS-related visual problems in future clinical trials.