ArticleAmerican journal of ophthalmology case reports2026
Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot.
Article in American journal of ophthalmology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To describe the clinical progression and ophthalmic findings in a Japanese boy with Tay-Sachs disease at ages 5 and 8 months. Results: The patient was born at 38 weeks of gestation and developed normally until motor skill delays were identified at age 1 year and 1 month. At that time, brain magnetic resonance imaging revealed diffuse T2 hyperintensity in the bilateral basal ganglia. At age 1 year and 6 months, he was able to fix and follow objects, and the optic discs appeared normal, but bilateral cherry-red spots were observed in the maculae. Based on these findings, together with hypersensitivity to sound and markedly reduced β-hexosaminidase A activity, Tay-Sachs disease was biochemically diagnosed. By age 2 years and 1 month, the patient had lost the ability to fixate on and follow objects. Fundoscopy at age 4 years and 4 months revealed optic atrophy and reduced cherry-red spots, electroretinography (ERG) at age 4 years and 9 months showed a complete loss of retinal responses, and optical coherence tomography at age 5 years and 3 months demonstrated retinal thinning. Long-term observation revealed progressive degeneration, consistent with previous reports. Lipid deposition in all retinal layers was considered to contribute to retinal atrophy. Conclusions: 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.