Ocular Manifestations, Optic Nerve Changes and genotype/phenotype correlation in Patients with Amyotrophic Lateral Sclerosis (Med Student: Joseph Simonett)

Project: Research project

Project Details


Amyotrophic lateral sclerosis (ALS) is a diverse group of neurodegenerative disorders characterized by muscle atrophy, progressive paralysis and eventual death due to respiratory failure. Prior studies have shown that ALS patients have visual acuity and ocular motility abnormalities, however no study to date has performed detailed retinal imaging or demonstrated optic nerve changes. Our preliminary data from examination of 6 Familial ALS patients revealed ocular changes including pupillary reflex defects, optic disc pallor and optic nerve head (ONH) thinning (Fig. 1). Expansion of this IRB-approved study will provide a description of these novel changes and their role in vision loss in this population. Through collaboration with the Northwestern University ALS Center of Excellence, we will enroll a cohort of patients with known and unknown etiologies of ALS and perform visual acuity, pupillometry and contrast sensitivity testing as well as retinal imaging to characterize ocular changes. Finally, analysis of ocular presentation data will be performed to examine phenotype/genotype and diseases state correlations.
Effective start/end date7/1/136/30/14


  • Illinois Society for the Prevention of Blindness (Ltr. 6/13/13)


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