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Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning

Title: Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning
Authors: Philipp L. Müller; Tim Treis; Alexandru Odainic; Maximilian Pfau; Philipp Herrmann; Adnan Tufail; Frank G. Holz
Source: Journal of Clinical Medicine, Vol 9, Iss 2428, p 2428 (2020)
Publisher Information: MDPI AG
Publication Year: 2020
Collection: Directory of Open Access Journals: DOAJ Articles
Subject Terms: retina; Stargardt disease; optical coherence tomography; visual acuity; electroretinogram; hereditary retinal disease; Medicine
Description: Full-field electroretinogram (ERG) and best corrected visual acuity (BCVA) measures have been shown to have prognostic value for recessive Stargardt disease (also called “ ABCA4 -related retinopathy”). These functional tests may serve as a performance-outcome-measure (PerfO) in emerging interventional clinical trials, but utility is limited by variability and patient burden. To address these limitations, an ensemble machine-learning-based approach was evaluated to differentiate patients from controls, and predict disease categories depending on ERG (‘inferred ERG’) and visual impairment (‘inferred visual impairment’) as well as BCVA values (‘inferred BCVA’) based on microstructural imaging (utilizing spectral-domain optical coherence tomography) and patient data. The accuracy for ‘inferred ERG’ and ‘inferred visual impairment’ was up to 99.53 ± 1.02%. Prediction of BCVA values (‘inferred BCVA’) achieved a precision of ±0.3LogMAR in up to 85.31% of eyes. Analysis of the permutation importance revealed that foveal status was the most important feature for BCVA prediction, while the thickness of outer nuclear layer and photoreceptor inner and outer segments as well as age of onset highly ranked for all predictions. ‘Inferred ERG’, ‘inferred visual impairment’, and ‘inferred BCVA’, herein, represent accurate estimates of differential functional effects of retinal microstructure, and offer quasi-functional parameters with the potential for a refined patient assessment, and investigation of potential future treatment effects or disease progression.
Document Type: article in journal/newspaper
Language: English
Relation: https://www.mdpi.com/2077-0383/9/8/2428; https://doaj.org/toc/2077-0383; https://doaj.org/article/71f5908ed0bc49158df99d5c0e9bee21
DOI: 10.3390/jcm9082428
Availability: https://doi.org/10.3390/jcm9082428; https://doaj.org/article/71f5908ed0bc49158df99d5c0e9bee21
Accession Number: edsbas.835D9BE8
Database: BASE