Abstract
Purpose: To evaluate the outer retinal bands using OCT in ABCA4- and PRPH2-associated retinopathy and develop a novel imaging biomarker to differentiate between these 2 genotypes. Design: Multicenter case-control study. Participants: Patients with a clinical and genetic diagnosis of ABCA4- or PRPH2-associated retinopathy and an age-matched control group. Methods: Macular OCT was used to measure the thickness of the outer retinal bands 2 and 4 by 2 independent examiners at 4 retinal loci. Main Outcome Measures: Outcome measures included the thicknesses of band 2, band 4, and the band 2/band 4 ratio. Linear mixed modeling was used to make comparisons across the 3 groups. Receiver operating characteristic (ROC) analysis determined the optimal cutoff for the band 2/band 4 ratio to distinguish PRPH2- from ABCA4-associated retinopathy. Results: We included 45 patients with ABCA4 variants, 45 patients with PRPH2 variants, and 45 healthy controls. Band 2 was significantly thicker in patients with PRPH2 compared with ABCA4 (21.4 vs. 15.9 m, P < 0.001) variants, whereas band 4 was thicker in patients with ABCA4 variants than those with PRPH2 variants (27.5 vs. 21.7 m, P < 0.001). Similarly, the band 2/band 4 ratio was significantly different (1.0 vs. 0.6 for PRPH2 vs. ABCA4, P < 0.001). The area under the ROC curve was 0.87 for either band 2 ( > 18.58 m) or band 4 ( < 26.17 μm) alone and 0.99 (95% confidence interval: 0.97–0.99) for the band 2/band 4 ratio with a cutoff threshold of 0.79, providing 100% specificity. Conclusions: We report an altered outer retinal band profile whereby the band 2/band 4 ratio was able to discriminate between PRPH2- and ABCA4-associated retinopathy. This may have future clinic utility in predicting the genotype and provide further insight into the anatomic correlate of band 2. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Keywords
Ellipsoid zone, Imaging biomarkers, OCT, Peripherin, Stargardt disease
Document Type
Journal Article
Date of Publication
2-1-2024
Volume
8
Issue
2
PubMed ID
37209970
Publication Title
Ophthalmology Retina
Publisher
Elsevier
School
School of Science
Funders
Retina Australia / Novartis / Apellis / National Health and Medical Research Council / Future Health Research and Innovation Fund / McCusker Charitable Foundation / Channel 7 Telethon Trust
Grant Number
NHMRC Numbers : GNT1195713, GNT1116360, GNT1188694, GNT1054712, MRF1142962
Grant Link
http://purl.org/au-research/grants/nhmrc/GNT1116360
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
First Page
174
Last Page
183
Comments
Jeffery, R. C. H., Lo, J., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., . . . Chen, F. K. (2024). Analysis of the outer retinal bands in ABCA4 and PRPH2-associated retinopathy using OCT. Ophthalmology Retina, 8(2), 174-183. https://doi.org/10.1016/j.oret.2023.05.010