Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease

S. Scott Whitmore; Christopher R Fortenbach; Justine L Cheng; Adam P DeLuca; D. Brice Critser; Elizabeth L Geary; Jeremy M Hoffmann; Edwin M Stone; Ian C Han

doi:10.1038/s41598-020-73645-5

Back

Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease

Journal article

Open access

Peer reviewed

Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease

S. Scott Whitmore, Christopher R Fortenbach, Justine L Cheng, Adam P DeLuca, D. Brice Critser, Elizabeth L Geary, Jeremy M Hoffmann, Edwin M Stone and Ian C Han

Scientific reports, Vol.10(1), pp.16576-16576

10/06/2020

DOI: 10.1038/s41598-020-73645-5

PMCID: PMC7538899

PMID: 33024232

Files and links (1)

url

https://doi.org/10.1038/s41598-020-73645-5View

Published (Version of record) Open Access

Abstract

Stargardt disease, the most common inherited macular dystrophy, is characterized by vision loss due to central retinal atrophy. Although clinical trials for Stargardt are currently underway, the disease is typically slowly progressive, and objective, imaging-based biomarkers are critically needed. In this retrospective, observational study, we characterize the thicknesses of individual retinal sublayers by macular optical coherence tomography (OCT) in a large cohort of patients with molecularly-confirmed, ABCA4 -associated Stargardt disease (STGD1) relative to normal controls. Automated segmentation of retinal sublayers was performed with manual correction as needed, and thicknesses in various macular regions were compared using mixed effects models. Relative to controls (42 eyes, 40 patients), STGD1 patients (107 eyes, 63 patients) had slight thickening of the nerve fiber layer and retinal pigment epithelium-Bruch’s membrane, with thinning in other sublayers, especially the outer nuclear layer (ONL) (p < 0.0015). When comparing the rate of retinal sublayer thickness change over time (mean follow-up 3.9 years for STGD1, 2.5 years for controls), STGD1 retinas thinned faster than controls in the outer retina (ONL to photoreceptor outer segments). OCT-based retinal sublayer thickness measurements are feasible in STGD1 patients and may provide objective measures of disease progression or treatment response.

Biomarkers

Eye diseases

Translational research

Clinical genetics

Medical imaging

Details

Title: Subtitle: Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease
Creators: S. Scott Whitmore - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Christopher R Fortenbach - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Justine L Cheng - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Adam P DeLuca - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
D. Brice Critser - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Elizabeth L Geary - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Jeremy M Hoffmann - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Edwin M Stone - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Ian C Han - 200 Hawkins Drive, PFP 11196K, Iowa City, IA 52242 USA
Resource Type: Journal article
Publication Details: Scientific reports, Vol.10(1), pp.16576-16576
DOI: 10.1038/s41598-020-73645-5
PMID: 33024232
PMCID: PMC7538899
NLM abbreviation: Sci Rep
ISSN: 2045-2322
eISSN: 2045-2322
Publisher: Nature Publishing Group UK; London
Grant note: ;
Language: English
Date published: 10/06/2020
Academic Unit: Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; Medical Genetics and Genomics; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Center for Bioinformatics and Computational Biology; Ophthalmology and Visual Sciences
Record Identifier: 9984070219702771

Metrics

28 Record Views

18 Times Cited - Web of Science

See more details