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Joseph Simonett, Jonathan Chou, Nailah Siddique, Jennifer Armstrong, Amani Fawzi, Teepu Siddique, Nicholas Volpe; Ocular Manifestations and Optic Nerve Changes in Patients with Amyotrophic Lateral Sclerosis (ALS). Invest. Ophthalmol. Vis. Sci. 2013;54(15):4382.
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ALS is a diverse group of neurologic diseases, of which only a subset has been linked to a variety of mutations, while the majority of mutations remain unknown. Our goal was to characterize the ocular manifestations and optic nerve changes in ALS patients, and to examine whether there were distinct phenotype/genotype correlations in a population of well characterized ALS patients at Northwestern University (ALS center of excellence).
At the time of abstract submission, a total of 4 ALS patients (two sibling pairs), ages 20-26 years old were analyzed. One sibling pair had autosomal recessive familial ALS (RFALS) (ALS5 variant), while the other sibling pair had an unknown mutation. Fundus photography and optical coherence tomography (OCT) methods were used to characterize the optic nerve, retinal nerve fiber layer (RNFL) thickness, and to measure optic nerve head (ONH) cupping.
Overall, we found abnormalities in optic nerve coloration, loss of RNFL, and vertical cupping. The sibling pair with unknown ALS mutation was found to have temporal optic nerve pallor in both eyes. The eldest (26 years old) of this pair demonstrated RNFL atrophy at the maculopapillary bundle, as seen on OCT, and both were found to have significantly decreased RNFL thickness (outside normal limits, p<0.01), most prominently on the temporal side. The sibling pair with RFALS had thinning of the inferior and superior aspects of the optic disc on fundus photography, which correlated with significantly decreased RNFL thickness predominantly in the superior and inferior aspects of the ONH (p<0.01). The papillomacular bundle appeared normal on OCT.
Using fundus photography and OCT, we have characterized the ocular manifestations of ALS in four patients, and are continuing to recruit additional patients. Temporal ONH pallor in one pair of patients correlated with loss of papillomacular bundle on OCT and temporal thinning of the RNFL. Inferior and superior RNFL loss in the other patients correlated with the observed vertical cupping. These findings suggest novel ocular manifestations of ALS and pathology which may account for vision complications in patients. This is the first study to show optic nerve and RNFL changes in ALS patients, and may offer insights into the diverse pathology associated with various ALS mutations.
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