Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.
We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.
D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000473:pathology*; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005733:Gangliosidoses / Q000473:pathology*; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009896:Optic Atrophy / Q000473:pathology*; D001616:beta-Galactosidase / Q000172:deficiency
D005677:G(M1) Ganglioside; D001616:beta-Galactosidase