Emilia Gatto, Virginia Laura Parisi, Susana Ochoa, Dario Scocco, Estela Fernandez Rey
ABSTRACT
Objectives: to examine the retina of Huntington Disease (HD) patients using Optical Coherence Tomography (OCT) to look for any abnormality. Background : OCT is a non invasive technique to obtain images of the Retinal Nerve Fiber Layer (RNFL) which contains non myelinated ganglion cell axons that form the optic nerve. Therefore, by observing this structure, we can examine the central nervous system. Besides its utility in optic nerve inflammatory diseases, in the past years several studies have evaluated the utility of OCT as a marker of neurodegeneration in Parkinson disease or Alzheimer disease. Although HD is an autosomal dominant neurodegenerative condition caused by abnormal CAG expansion with no retinal impairment, studies in animal models have shown an early and progressive retinal degeneration with photoreceptor damage. Patients and Methods: We performed a Fourier domain OCT (Heidelberg Engineering, OCT Spectralis plus) in HD patients. All patients had previous normal ophthalmologic examination. RNFL thickness was assessed in temporal, nasal, inferior and superior quadrants and automatically compared by the equipment with standardized controls. Demographic data was obtained. Results: Nineteen eyes of 10 HD patients (6 women) underwent OCT, mean age 41 years, median CAG repeat 44, mean disease duration 5 years. Five eyes from 4 patients showed borderline temporal RNFL thinning; rest of quadrants showed no difference. Conclusions: This is a first approach to evaluate the utility of a non invasive technique to assess neurodegeneration in HD patients. Though we found RNFL thinning at least in one eye in 40[percnt] of patients, this small sample size does not allow us to speculate of any punctual or significant abnormality. A more extensive study is ongoing to test OCT as a reliable biomarker for HD. Supported by: NA
Neurology April 6, 2015 vol. 84 no. 14 Supplement P5.295
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