Superotemporal predisposition to traumatic subretinal fibrosis in Stargardt disease: A case report

Subretinal fibrosis has been reported as a presumed late sequela of orbital trauma in those with Stargardt disease (STGD). This case report highlights the sequential pathologic changes in response to trauma utilizing multimodal imaging.

An asymptomatic 19-year-old female with no significant ocular history presented for possible drusen. Initial imaging noted yellow-white pisciform perifoveal flecks in both eyes with corresponding hyper-and hypo-fluorescent lesions on fundus autofluorescence and hyperreflective deposits on near-infrared and spectral-domain optical coherence tomography (SD-OCT). A few months later, the patient presented with a new onset "black shadow" in the right eye after a traumatic periorbital injury, with multi-modal imaging revealing sequelae of commotio retinae superotemporally. Follow-up imaging three months later revealed a large patch of hyperpigmented chorioretinal scar corresponding to the region of commotio. SD-OCT delineated findings consistent with subretinal fibrosis. Given the constellation of findings and subsequent genetic testing, the patient was diagnosed with STGD.

Multimodal imaging allows for the detection of traumatic transformation of STGD and monitoring for early signs of massive lipofuscin release within the immediate post-traumatic period. Given the impact of minor orbital trauma on prognosis, caution should be taken to minimize and prevent orbital trauma in patients with STGD.