| Phenotype details |
Stargardt disease; y30, OD: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients./A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM and subsequent inner retinal layers appeared to be present but structurally frail. /Atrophy/A horizontally elongated lesion of hypoautofluorescence is seen. |
