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

Mya Abousy, Lauren Hucko, Audina Berrocal, Erick Vinicio Saenz

Abstract readCase Reports

In one paragraph

Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Mya AbousyDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, Florida, USA.

Lauren HuckoDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, Florida, USA.

Audina BerrocalDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, Florida, USA.

Erick Vinicio SaenzDepartment of Pediatric Ophthalmology, University of Galileo, Calle Dr. Eduardo Suger Cofiño, Guatemala City, Guatemala.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Cherry red spotGuatemalaIndigenousMayanPediatric retinaTay-Sachs

Identifiers

PMID40852472

DOI10.1016/j.ajoc.2025.102381

PMCPMC12369426

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.