Literature DB >> 33446864

Inferred retinal sensitivity in recessive Stargardt disease using machine learning.

Philipp L Müller1,2,3,4, Alexandru Odainic5, Tim Treis6, Philipp Herrmann5,7, Adnan Tufail8,9, Frank G Holz5,7, Maximilian Pfau5,10.   

Abstract

Spatially-resolved retinal function can be measured by psychophysical testing like fundus-controlled perimetry (FCP or 'microperimetry'). It may serve as a performance outcome measure in emerging interventional clinical trials for macular diseases as requested by regulatory agencies. As FCP constitute laborious examinations, we have evaluated a machine-learning-based approach to predict spatially-resolved retinal function ('inferred sensitivity') based on microstructural imaging (obtained by spectral domain optical coherence tomography) and patient data in recessive Stargardt disease. Using nested cross-validation, prediction accuracies of (mean absolute error, MAE [95% CI]) 4.74 dB [4.48-4.99] were achieved. After additional inclusion of limited FCP data, the latter reached 3.89 dB [3.67-4.10] comparable to the test-retest MAE estimate of 3.51 dB [3.11-3.91]. Analysis of the permutation importance revealed, that the IS&OS and RPE thickness were the most important features for the prediction of retinal sensitivity. 'Inferred sensitivity', herein, enables to accurately estimate differential effects of retinal microstructure on spatially-resolved function in Stargardt disease, and might be used as quasi-functional surrogate marker for a refined and time-efficient investigation of possible functionally relevant treatment effects or disease progression.

Entities:  

Year:  2021        PMID: 33446864     DOI: 10.1038/s41598-020-80766-4

Source DB:  PubMed          Journal:  Sci Rep        ISSN: 2045-2322            Impact factor:   4.379


  28 in total

Review 1.  Natural history of phenotypic changes in Stargardt macular dystrophy.

Authors:  Saloni Walia; Gerald A Fishman
Journal:  Ophthalmic Genet       Date:  2009-06       Impact factor: 1.803

Review 2.  Use of fundus perimetry (microperimetry) to quantify macular sensitivity.

Authors:  Klaus Rohrschneider; Stefan Bültmann; Christina Springer
Journal:  Prog Retin Eye Res       Date:  2008-08-03       Impact factor: 21.198

3.  CHOROIDAL ALTERATIONS IN ABCA4-RELATED RETINOPATHY.

Authors:  Philipp L Müller; Rolf Fimmers; Martin Gliem; Frank G Holz; Peter Charbel Issa
Journal:  Retina       Date:  2017-02       Impact factor: 4.256

4.  Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration.

Authors:  N L Mata; J Weng; G H Travis
Journal:  Proc Natl Acad Sci U S A       Date:  2000-06-20       Impact factor: 11.205

5.  Visual acuity loss and clinical observations in a large series of patients with Stargardt disease.

Authors:  Ygal Rotenstreich; Gerald A Fishman; Robert J Anderson
Journal:  Ophthalmology       Date:  2003-06       Impact factor: 12.079

6.  Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10.

Authors:  Xiangrong Kong; Kaoru Fujinami; Rupert W Strauss; Beatriz Munoz; Sheila K West; Artur V Cideciyan; Michel Michaelides; Mohamed Ahmed; Ann-Margret Ervin; Etienne Schönbach; Janet K Cheetham; Hendrik P N Scholl
Journal:  JAMA Ophthalmol       Date:  2018-08-01       Impact factor: 7.389

7.  PROGRESSION OF ABCA4-RELATED RETINOPATHY: Prognostic value of demographic, functional, genetic, and imaging parameters.

Authors:  Philipp L Müller; Maximilian Pfau; Tim Treis; Isabel Pascual-Camps; Johannes Birtel; Moritz Lindner; Philipp Herrmann; Frank G Holz
Journal:  Retina       Date:  2020-12       Impact factor: 4.256

Review 8.  The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.

Authors:  Robert K Koenekoop
Journal:  Ophthalmic Genet       Date:  2003-06       Impact factor: 1.803

9.  Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy.

Authors:  Philipp L Müller; Johannes Birtel; Philipp Herrmann; Frank G Holz; Peter Charbel Issa; Martin Gliem
Journal:  Transl Vis Sci Technol       Date:  2019-12-20       Impact factor: 3.283

10.  Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Authors:  Johannes Birtel; Tobias Eisenberger; Martin Gliem; Philipp L Müller; Philipp Herrmann; Christian Betz; Diana Zahnleiter; Christine Neuhaus; Steffen Lenzner; Frank G Holz; Elisabeth Mangold; Hanno J Bolz; Peter Charbel Issa
Journal:  Sci Rep       Date:  2018-03-19       Impact factor: 4.379

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  2 in total

1.  Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.

Authors:  Maximilian Pfau; Catherine A Cukras; Laryssa A Huryn; Wadih M Zein; Ehsan Ullah; Marisa P Boyle; Amy Turriff; Michelle A Chen; Aarti S Hinduja; Hermann Ea Siebel; Robert B Hufnagel; Brett G Jeffrey; Brian P Brooks
Journal:  JCI Insight       Date:  2022-01-25

2.  Estimation of current and post-treatment retinal function in chronic central serous chorioretinopathy using artificial intelligence.

Authors:  Maximilian Pfau; Elon H C van Dijk; Thomas J van Rijssen; Steffen Schmitz-Valckenberg; Frank G Holz; Monika Fleckenstein; Camiel J F Boon
Journal:  Sci Rep       Date:  2021-10-14       Impact factor: 4.379

  2 in total

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