Combining macula clinical signs and patient characteristics for age-related macular degeneration diagnosis: a machine learning approach

Fraccaro, Paolo, Nicolo, Massimo, Bonetto, Monica, Giacomini, Mauro, Weller, Peter, Traverso, Carlo Enrico, Prosperi, Mattia and O'Sullivan, Dympna (2015) Combining macula clinical signs and patient characteristics for age-related macular degeneration diagnosis: a machine learning approach. BMC Ophthalmology, 15 (10). ISSN 1471-2415

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Abstract

Background
To investigate machine learning methods, ranging from simpler interpretable techniques to complex (non-linear) “black-box” approaches, for automated diagnosis of Age-related Macular Degeneration (AMD).

Methods
Data from healthy subjects and patients diagnosed with AMD or other retinal diseases were collected during routine visits via an Electronic Health Record (EHR) system. Patients’ attributes included demographics and, for each eye, presence/absence of major AMD-related clinical signs (soft drusen, retinal pigment epitelium, defects/pigment mottling, depigmentation area, subretinal haemorrhage, subretinal fluid, macula thickness, macular scar, subretinal fibrosis). Interpretable techniques known as white box methods including logistic regression and decision trees as well as less interpreitable techniques known as black box methods, such as support vector machines (SVM), random forests and AdaBoost, were used to develop models (trained and validated on unseen data) to diagnose AMD. The gold standard was confirmed diagnosis of AMD by physicians. Sensitivity, specificity and area under the receiver operating characteristic (AUC) were used to assess performance.

Results
Study population included 487 patients (912 eyes). In terms of AUC, random forests, logistic regression and adaboost showed a mean performance of (0.92), followed by SVM and decision trees (0.90). All machine learning models identified soft drusen and age as the most discriminating variables in clinicians’ decision pathways to diagnose AMD.

Conclusions
Both black-box and white box methods performed well in identifying diagnoses of AMD and their decision pathways. Machine learning models developed through the proposed approach, relying on clinical signs identified by retinal specialists, could be embedded into EHR to provide physicians with real time (interpretable) support.

Item Type:	Article
Subjects:	Q Science > QA Mathematics > Electronic computers. Computer science T Technology > T Technology (General) > Information Technology > Electronic computers. Computer science R Medicine > Healthcare Industry
Divisions:	School of Computing > Staff Research and Publications
Depositing User:	Caoimhe Ní Mhaicín
Date Deposited:	21 Sep 2018 14:21
Last Modified:	21 Sep 2018 14:21
URI:	https://norma.ncirl.ie/id/eprint/3160

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