Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening.

PURPOSE

This report describes an unusual macular presentation of Tay-Sachs disease in a two-year-old female of Guatemalan-Mayan origin. This case serves to build upon the very limited literature regarding ophthalmic manifestations of Tay-Sachs disease in the non-Caucasian population.

OBSERVATIONS

The patient and family presented with concern for poor visual acuity and hyperacusis. A brown macular spot with perifoveal whitening was identified in both eyes on fundus examination. Laboratory studies revealed low hexosaminidase A levels, which confirmed the diagnosis of Tay-Sachs disease.

CONCLUSIONS AND IMPORTANCE

This is an extremely rare case of Tay-Sachs disease in a patient of Guatemalan-Mayan origin diagnosed by enzyme studies and fundus examination. Further, it is one of the few documented cases of "brown spots" appreciated in association with Tay-Sachs disease, as opposed to the classic "cherry red spot". This case presentation challenges the nomenclature of the "cherry red spot" to account for the variations in the fundus that may occur in different racial and ethnic groups that present with Tay-Sachs disease.