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.

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

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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

First Page

174

Last Page

183

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Link to publisher version (DOI)

10.1016/j.oret.2023.05.010