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Editor,—Tay-Sachs disease is characterised by lesions in the central nervous systems due to the precipitation of GM2 trihexosylceramide in neurocytes.1 Its onset at around 6 months after birth is manifested by mental and emotional retardation together with hypomyotonia and hyperacusis as its typical signs. Subsequently, the patient tends to develop convulsions insidiously and usually dies at 2–4 years of age. A cherry red spot and optic nerve atrophy are the characteristic ophthalmic signs in this disease.
This report deals with observations of a patient with Tay-Sachs disease whose ophthalmic signs were monitored from birth to his death at the age of 5 years 8 months. During this period, a cherry red spot developed and then diminished in both eyes.
CASE REPORT
The subject was a boy who was born weighing 1600 g at a gestational age of 36 weeks. Two weeks after birth, ophthalmoscopy …