Cherry Red Spot Myoclonus Syndrome

Neuroophthalmology. 2019 Dec 9;45(1):65-67. doi: 10.1080/01658107.2019.1676264.

Abstract

Cherry red spot is a known sign of retinal occlusive disease. However, when it occurs bilaterally in a young patient with neurological findings, a diagnosis of retinal occlusive disease becomes farfetched, and the possibility of a storage disorder is raised. We report multimodal retinal imaging findings in a case of cherry-red spot myoclonus syndrome. This form of imaging helps in the ophthalmological diagnosis and management of these patients.

Keywords: Cherry red spot; fluorescein angiography; myoclonus; optical coherence tomography; sialidosis.