Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.

Sorcinelli R,Sitzia A,Loi M

Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.

1987

Sorcinelli R
Sitzia A
Loi M

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.

Keywords:

Cornea
Optic nerve
Eye disease
Gangliosidosis
Tay-Sachs disease
GM1 Gangliosidosis
Pathology
Endocrinology
Atrophy
Medicine
Cherry-red spot
Internal medicine

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