10.23642/USN.25272964 Pedersen Hilde Røgeberg Hilde en Hilde Røgeberg https://orcid.org/0000-0003-3946-6687 University of South-Eastern Norway Gilson Stuart University of South-Eastern Norway Hagen Lene Aarvelta Hagen Lene Aarvelta https://orcid.org/0000-0002-9017-4519 University of South-Eastern Norway Holtan Josephine Prener Josephine ephine Prener University of South-Eastern Norway Bragadottir Ragnheidur University of South-Eastern Norway Baraas Rigmor C. Rigmor Rigmor C. https://orcid.org/0000-0003-3259-7617 University of South-Eastern Norway DataverseNO 2024 Other Stargardt’s disease STGD1 ABCA4 adult-onset multi-modal imaging adaptive optics retina photoreceptors University of South-Eastern Norway University of South-Eastern Norway USN Research Data Support University of South-Eastern Norway 2024-04-12 2024-04-12 10.3389/FOPHT.2024.1384473 10.23642/USN.25272964/THKRCJ 10.23642/USN.25272964/9ZOEIQ 10.23642/USN.25272964/0LJDGB 10.23642/USN.25272964/9RZM9W 10.23642/USN.25272964/OCJUUP 10.23642/USN.25272964/QFGUXR 1510 461 4690 5946 2661 3872 text/csv text/csv text/csv text/plain text/plain text/plain 1.0 Creative Commons Attribution 4.0 International License. DATASET MIGRATED FROM FIGSHARE: <p dir="ltr"><b>Article Abstract - Related Publication</b></p><p dir="ltr"><b>Purpose: </b>To characterize retinal structural biomarkers for progression in adult-onset Stargardt 19 disease from multimodal retinal imaging in-vivo maps.</p><p dir="ltr"><b>Methods: </b>Seven adult patients (29–69 years; 3 males) with genetically-confirmed and clinical diagnosed adult-onset Stargardt disease and age-matched healthy controls were imaged with confocal and non-confocal Adaptive Optics Scanning Light Ophthalmoscopy (AOSLO), optical coherence tomography (OCT), fundus infrared (FIR), short wavelength-autofluorescence (FAF) and color fundus photography (CFP). Images from each modality were scaled for differences in lateral magnification before montages of AOSLO images were aligned with en-face FIR, FAF and OCT scans to explore changes in retinal structure across imaging modalities. Photoreceptors, retinal pigment epithelium (RPE) cells, flecks, and other retinal alterations in macular regions were identified, delineated, and correlated across imaging modalities. Retinal layer-thicknesses were extracted from segmented OCT images in areas of normal appearance on clinical imaging and intact outer retinal structure on OCT. Eccentricity dependency in cell density was compared with retinal thickness and outer retinal layer thickness, evaluated across patients, and compared with data from healthy controls.</p><p dir="ltr"><b>Results: </b>In patients with Stargardt disease, alterations in retinal structure were visible in different image modalities depending on layer location and structural properties. The patients had highly variable foveal structure, associated with equally variable visual acuity (-0.02 to 0.98 logMAR). Cone and rod photoreceptors, as well as RPE-like structures in some areas, could be quantified on non-confocal split-detection AOSLO images. RPE cells were also visible on dark field AOSLO images close to the foveal center. Hypo-reflective gaps of non-waveguiding cones (dark cones) were seen on confocal AOSLO in regions with clinically normal CFP, FIR, FAF and OCT appearance and an intact cone inner segment mosaic in three patients.</p><p dir="ltr"><b>Conclusion: </b>Dark cones were identified as a possible first sign of retinal disease progression in adult-onset Stargardt disease as these are observed in retinal locations with otherwise normal appearance and outer retinal thickness. This corroborates a previous report where dark cones were proposed as a first sign of progression in childhood-onset Stargardt disease. This also supports the hypothesis that, in Stargardt disease, photoreceptor degeneration occurs before RPE cell death.</p> Funded by the Research Council of Norway (322913 ERA-NET NEURON JTC2020 Artificial 350 Intelligence for Diagnosing Retinal Diseases.