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Expedited Publication, Ophthalmic Image

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

Grover, Rohini; Sutar, Samir1; Juneja, Supreet2

Author Information
Indian Journal of Ophthalmology: July 2021 - Volume 69 - Issue 7 - p 1955
doi: 10.4103/ijo.IJO_681_21
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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
Figure 1:
Use of pediatric fundus camera for detection of Tay–Sachs disease

Financial support and sponsorship

Nil.

Conflicts of interest

None of the authors have any proprietary interests or conflicts of interest related to this submission.

Acknowledgments

The authors acknowledge the support for 3nethra Neo, Forus Health, India, provided by Gerald A. Cooper-Key Foundation and Operation Eyesight Universal.

Authors would like to thank Mr. Lokesh Chauhan, Department of Clinical Research, CL Gupta Eye Institute, Moradabad (India) for his technical support.

1. Vinekar A, Rao SV, Murthy S, Jayadev C, Dogra MR, Verma A, et al A novel, low-cost, wide-field, infant retinal camera, “Neo“:Technical and safety report for the use on premature infants Transl Vis Sci Technol. 2019;8:2
2. Ospina LH, Lyons CJ, McCormick AQ. “Cherry-red spot“or “perifoveal white patch“? Can J Ophthalmol. 2005;40:609–10
3. Fontaine G, Résibois A, Tondeur M, Jonniaux G, Farriaux JP, Voet W, et al Gangliosidosis with total hexosaminidase deficiency:Clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease Acta Neuropathol. 1973;23:118–32
© 2021 Indian Journal of Ophthalmology | Published by Wolters Kluwer – Medknow