Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis

The authors report the characteristics of fundus autofluorescence (FAF) images in a patient with galactosialidosis who presented with a macular cherry-red spot ophthalmoscopically. The cherry-red spot in the macula was hyperreflective in the FAF images. Optical coherence tomography (OCT) revealed an abnormally hyperreflective region in the retinal ganglion cell layer; however, the boundary between hyperreflective and normal regions was not clear. The findings indicate that FAF may be a more useful method to detect macular lesions than conventional funduscopic examination and OCT imaging in patients with lysosomal storage diseases presenting with a macular cherry-red spot.