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CASE REPORT

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

Poster Free Paper

PRESENTING AUTHOR

Mya Abousy, MD

MA, LH, AB: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of ...
abousymya@gmail.com
  • Mya Abousy, MD,
    MA, LH, AB: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street Miami, Flor...
  • Lauren Hucko, MD, MPH,
    MA, LH, AB: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street Miami, Flor...
  • Erick Vinicio Saenz, MD,
    MA, LH, AB: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street Miami, Flor...
  • Audina Berrocal, MD,
    MA, LH, AB: Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street Miami, Flor...
  • Purpose:

    This case describes the first reported case of Tay-Sachs disease in a patient of Guatemalan-Mayan origin and highlights the patient’s unusual macular presentation. This case further serves to challenge current terminology used to describe the macular presentation of this disease.

  • Case Report:

    The patient and family presented with concern for poor visual acuity and hyperacusis. The patient’s parents endorsed consanguinity. Fundus examination revealed a brown macular spot with perifoveal whitening in both eyes. Laboratory studies revealed low hexosaminidase A levels, which confirmed the diagnosis of Tay-Sachs disease.

  • Discussion:

    Our case emphasizes the need for suspicion of Tay-Sachs disease in patients with foveolar hyperpigmentation and perifoveal whitening, rather than the classic cherry red spot. The index of suspicion for Tay-Sachs disease or other sphingolipidoses should be high when macular brown/black spots are appreciated, especially among non-Caucasian patients. Genetic and/or enzymatic testing should be pursued to identify the specific cause of this macular finding, and providers should inquire about parental consanguinity in patients with these characteristic findings to better stratify patient risk.

  • Conclusions:

    Considering the variation in retinal pigmentation across racial and ethnic groups, we encourage use of “perifoveal white patch” rather than “cherry red spot” to describe such findings.

The authors have no financial interests in any material discussed in this article. There are no conflicts of interest to disclose.