Figure 2. Selected ophthalmology and cardiology results.

Panels A1 and A2: Corneal slit-lamp photographs from the same Juvenile GM1 patient showing slow progression of corneal clouding over a five-year period. Panel B: Left eye Topcon color fundus photograph from a Juvenile GM1 patient showing an essentially normal fundus with no evidence of macular or optic nerve head pathology. Panel C: Right eye RetCam fundus photography of a late-infantile GM1 patient showing normal macula and optic nerve with minimal retinal vascular tortuosity. Panels D and E: Two dimensional and color transthoracic echocardiographic imaging of the left ventricular outflow tract from a single Juvenile GM1 patient. The red arrow points to aortic valve leaflet thickening with associated aortic regurgitation. These images are representative of the abnormal thickening of the aortic valve leaflets with associated aortic regurgitation observed in three unrelated Juvenile GM1 patients (23% of those who received ECHO; an additional five participants had aortic and/or mitral valve leaflets that were qualitatively thickened for age but without regurgitation or stenosis).