Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot

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Authors

Noriko Tsutsumi · Juntendo University Urayasu Hospital

Riyu Ikari · Juntendo University Urayasu Hospital

Nobuyuki Ebihara · Juntendo University Urayasu Hospital

Abstract

This report highlights progressive retinal degeneration with optic atrophy, retinal thinning, and reduction in cherry-red spots. The flat ERG waveform in this patient suggests more advanced retinal involvement than in previous reports and provides insights into the ocular manifestations of Tay-Sachs disease.

Topics & Keywords

Lysosomal Storage Disorders Research Mosquito-borne diseases and control Trypanosoma species research and implications

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: American Journal of Ophthalmology Case Reports

Volume 42, pp. 102548-102548

DOI: 10.1016/j.ajoc.2026.102548

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