Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic.

Abstract

A 5-month-old term infant with delayed milestones referred by a neonatologist was examined at the vision center using a pediatric fundus camera (3nethra Neo, Forus Health, India)[1] during the COVID-19 (coronavirus disease 2019) pandemic in rural west Uttar Pradesh, India. History of consanguinity was present. A cherry-red spot was noticed at the posterior pole in both eyes.[2] The patient was sent back and magnetic resonance imaging and blood tests were done that revealed white matter demyelination in the periventricular area and decreased level of hexosaminidase A and B (quantitative GM2 gangliosidosis 55.79 nmol/mg)[3] suggestive of Tay–Sachs disease. Telemedicine while bridging the health care gap in the rural–urban divide, bridged the gap between the suspicion and the diagnosis, too [Fig. 1].Figure 1: Use of pediatric fundus camera for detection of Tay–Sachs diseaseFinancial support and sponsorship Nil. Conflicts of interest None of the authors have any proprietary interests or conflicts of interest related to this submission.