Abstract

Machine learning approaches in diagnosis and prognosis of multiple sclerosis (MS) were analysed using retinal nerve fiber layer (RNFL) thickness, measured by optical coherence tomography (OCT). A cross-sectional study (72 MS patients and 30 healthy controls) was used for diagnosis. These 72 MS patients were involved in a 10-year longitudinal follow-up study for prognostic purposes. Structural measurements of RNFL thickness were performed using different Spectralis OCT protocols: fast macular thickness protocol to measure macular RNFL, and fast RNFL thickness protocol and fast RNFL-N thickness protocol to measure peripapillary RNFL. Binary classifiers such as multiple linear regression (MLR), support vector machines (SVM), decision tree (DT), k-nearest neighbours (k-NN), Naïve Bayes (NB), ensemble classifier (EC) and long short-term memory (LSTM) recurrent neural network were tested. For MS diagnosis, the best acquisition protocol was fast macular thickness protocol using k-NN (accuracy: 95.8%; sensitivity: 94.4%; specificity: 97.2%; precision: 97.1%; AUC: 0.958). For MS prognosis, our model with a 3-year follow up to predict disability progression 8 years later was the best predictive model. DT performed best for fast macular thickness protocol (accuracy: 91.3%; sensitivity: 90.0%; specificity: 92.5%; precision: 92.3%; AUC: 0.913) and SVM for fast RNFL-N thickness protocol (accuracy: 91.3%; sensitivity: 87.5%; specificity: 95.0%; precision: 94.6%; AUC: 0.913). This work concludes that measurements of RNFL thickness obtained with Spectralis OCT have a good ability to diagnose MS and to predict disability progression in MS patients. This machine learning approach would help clinicians to have valuable information.

Highlights

  • Multiple sclerosis (MS) is a chronic inflammatory demyelinating autoimmune disease of the central nervous system (CNS) in which axonal loss is considered the main cause of disability.[61]

  • Most ML approaches were based on the magnetic resonance imaging (MRI) examination to diagnose multiple sclerosis (MS) or to predict disease progression, following the emerging use of image analysis.[1]

  • We propose a ML approach to diagnose MS and provide long-term predictions of disability progression based on retinal nerve fiber layer (RNFL)

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Summary

Introduction

Multiple sclerosis (MS) is a chronic inflammatory demyelinating autoimmune disease of the central nervous system (CNS) in which axonal loss is considered the main cause of disability.[61]. Despite its high heterogeneity and unpredictable course, this disease is characterized by relapses with reversible neurological problems. Axonal damage in MS patients is widespread in the neuroretina. The visual pathway is one of the most affected systems, where inflammation, demyelination and axonal degeneration cause visual symptoms. This fact highlights the importance of studying neuroretina as a possible MS biomarker.[13,45]. OCT devices provide measurements of each retinal layer and, show great potential for quantifying axonal damage by measuring peripapillary retinal nerve fiber layer (pRNFL) and macular RNFL (mRNFL) thicknesses.[30]

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