Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot
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.
Authors
- Sonoko Sakata (ORCID: https://orcid.org/0000-0002-3775-9673)
- Riyu Ikari
- Noriko Tsutsumi
- Nobuyuki Ebihara
Institutions
- Inouye Eye Hospital (JP)
- Juntendo University Urayasu Hospital (JP)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2026-02-21
- DOI
- https://doi.org/10.1016/j.ajoc.2026.102548
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00