Thurtell, Matthew J. and Dell’Osso, Louis F. and Leigh, R. John and Matta, Manuela and Jacobs, J. B. and Tomsak, Robert L. (2010) Effects of acetazolamide on infantile nystagmus syndrome waveforms: comparisons to contact lenses and convergence in a well-studied subject. The Open Ophthalmology Journal, Vol. 4 , p. 42-51. ISSN 1874-3641. Article.
Aim: To determine if acetazolamide, an effective treatment for certain inherited channelopathies, has
therapeutic effects on infantile nystagmus syndrome (INS) in a well-studied subject, compare them to other therapies in
the same subject and to tenotomy and reattachment (T&R) in other subjects.
Methods: Eye-movement data were taken using a high-speed digital video recording system. Nystagmus waveforms were
analyzed by applying an eXpanded Nystagmus Acuity Function (NAFX) at different gaze angles and determining the
Longest Foveation Domain (LFD).
Results: Acetazolamide improved foveation by both a 59.7% increase in the peak value of the NAFX function (from
0.395 to 0.580) and a 70% broadening of the NAFX vs Gaze Angle curve (the LFD increased from 20° to 34°). The
resulting U-shaped improvement in the percent NAFX vs Gaze Angle curve, varied from ~60% near the NAFX peak to
over 1000% laterally. The therapeutic improvements in NAFX from acetazolamide (similar to T&R) were intermediate
between those of soft contact lenses and convergence, the latter was best; for LFD improvements, acetazolamide and
contact lenses were equivalent and less effective than convergence. Computer simulations suggested that damping the
central oscillation driving INS was insufficient to produce the foveation improvements and increased NAFX values.
Conclusion: Acetazolamide resulted in improved-foveation INS waveforms over a broadened range of gaze angles,
probably acting at more than one site. This raises the question of whether hereditary INS involves an inherited
channelopathy, and whether other agents with known effects on ion channels should be investigated as therapy for this
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