Abousy Mya, Hucko Lauren, Berrocal Audina, Saenz Erick Vinicio
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, Florida, USA.
Department of Pediatric Ophthalmology, University of Galileo, Calle Dr. Eduardo Suger Cofiño, Guatemala City, Guatemala.
Am J Ophthalmol Case Rep. 2025 Jul 8;39:102381. doi: 10.1016/j.ajoc.2025.102381. eCollection 2025 Sep.
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.
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.
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.
本报告描述了一名来自危地马拉玛雅族的两岁女性患泰-萨克斯病时不寻常的黄斑表现。该病例有助于补充关于非白种人群中泰-萨克斯病眼部表现的极为有限的文献资料。
患者及其家属因视力差和听觉过敏前来就诊。眼底检查发现双眼有一个褐色黄斑区伴黄斑中心凹周围变白。实验室检查显示己糖胺酶A水平降低，这证实了泰-萨克斯病的诊断。
这是一例通过酶学研究和眼底检查确诊的极为罕见的危地马拉玛雅族泰-萨克斯病患者。此外，这是少数有记录的与泰-萨克斯病相关的“褐色斑点”病例之一，而非典型的“樱桃红斑”。该病例报告对“樱桃红斑”的命名提出了挑战，以解释在患有泰-萨克斯病的不同种族和民族中眼底可能出现的变化。
