Table 3.
Retinal phenotype in participants with Stargardt disease.
| Participant | Colour | SW-FAF | NI-FAF | SD-OCT |
|---|---|---|---|---|
| S01 | OU: central macular and peripapillary chorioretinal atrophy | OU: reticular pattern of AF abnormalities extending external to the arcades, peripapillary hypo-AF | N/A | OU: common phenotype of SD-OCT abnormalities. OS: foveal sparing |
| S02 | OU: irregular central macular RPE reflex, retinal flecks | OU: reticular pattern of AF abnormalities extending external to the arcades | N/A | OU: common phenotype of SD-OCT abnormalities |
| S03 | OU: chorioretinal atrophy within the vascular arcades and central macula | OU: reticular pattern of AF abnormalities extending external to the arcades | N/A | OU: common phenotype of SD-OCT abnormalities, foveal sparing |
| S04 | OU: retinal flecks extending external to the arcades | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities, foveal sparing |
| S05 | OU: central macular chorioretinal atrophy | OU: reticular pattern of AF abnormalities extending external to the arcades | N/A | OU: common phenotype of SD-OCT abnormalities, early features of ORD |
| S06 | OU: irregular central macular RPE reflex | OU: common phenotype of AF abnormalities | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities, hyper-reflective foci predominantly within the ONL, early features of ORD |
| S07 | OU: central macular irregular RPE reflex, retinal flecks | OU: common phenotype of AF abnormalities | N/A | OU: common phenotype of SD-OCT abnormalities, early features of ORD |
| S08 | OU: central macular chorioretinal atrophy | OU: reticular pattern of AF abnormalities extending external to the arcades | N/A | OU: common phenotype of SD-OCT abnormalities, early features of ORD |
| S09 | OU: irregular central macular RPE reflex | OU: common phenotype of AF abnormalities | N/A | OD: common phenotype of SD-OCT abnormalities, early features of ORD. OS: optical gap phenotype |
| S10 | OU: central macular irregular RPE reflex, retinal flecks | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities, hyper-reflective foci predominantly within the ONL, early features of ORD |
| S11 | OU: central macular chorioretinal atrophy | OU: reticular pattern of AF abnormalities extending external to the arcades | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities |
| S12 | OU: irregular central macular RPE reflex | OU: common phenotype of AF abnormalities | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities, hyper-reflective foci predominantly within the ONL, early features of ORD |
| S13 | OU: central macular chorioretinal atrophy, retinal flecks | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities. OD: epiretinal membrane |
| S14 | OU: central macular chorioretinal atrophy, retinal flecks | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities |
| S15 | OU: central macular chorioretinal atrophy, retinal flecks | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities, early features of ORD |
| S16 | OU: central macular chorioretinal atrophy, retinal flecks | OU: common phenotype of AF abnormalities, hyper-AF retinal flecks | OU: common phenotype of AF abnormalities | OU: common phenotype of SD-OCT abnormalities |
AF autofluorescence, NI-FAF near-infrared fundus autofluorescence, OD right eye, ONL outer nuclear layer, ORD outer retinal degeneration, OS left eye, OU both eyes, RPE retinal pigment epithelium, SD-OCT spectral-domain optical coherence tomography, SW-FAF short-wavelength fundus autofluorescence.