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Record W4396240919 · doi:10.1097/icb.0000000000001586

VITREOUS ABNORMALITIES IN A PATIENT WITH GAUCHER DISEASE

2024· article· en· W4396240919 on OpenAlexaff
Michael Y.K Mak, William M. Trask, Jaxon J. Huang, Jasmine Li, Andrzej Kulaga, Feisal A. Adatia

Bibliographic record

VenueRetinal Cases & Brief Reports · 2024
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsEyeball (Canada)Gimbel Eye CentreRockyview General HospitalUniversity of Calgary
Fundersnot available
KeywordsMedicineDiseaseInternal medicine

Abstract

fetched live from OpenAlex

Purpose: The objective of this study was to report a case and management of vitreous abnormalities in a patient with Gaucher disease. Methods: This was a case report. Results: A 28-year-old woman with a known diagnosis of Gaucher disease presented to our retina service with complaints of blurry vision in both eyes. Ophthalmic examination revealed a Snellen visual acuity of 20/70 in the right eye and 20/20 in the left eye. The anterior segment examination was unremarkable bilaterally; however, the vitreous was notable for multiple yellowish-white vitreous opacification in both eyes. Fluorescein angiography revealed the opacities but was otherwise unremarkable in terms of retinal vascular findings. Swept source optical coherence tomography confirmed the position of these vitreous abnormalities to be directly anterior to and in contact with the retinal nerve fiber layer. She subsequently underwent 23-gauge pars plana vitrectomy to remove the vitreous debris; triamcinolone acetate (Kenalog) was used intraoperatively to visualize the posterior hyaloid. The cassette was sent for pathological analysis, which revealed amorphous vitreous material with occasional lymphocytes and histiocytes. Her postvitrectomy Snellen visual acuity was 20/40 in the right eye with pinhole to 20/25, and the patient reported resolution of her subjective symptoms. Her opacities had not recurred as of the last follow-up. Conclusion: Vitreous abnormalities in Gaucher disease are an extremely rare and uncommon ophthalmologic finding. As our case demonstrates, vitrectomy can be an appropriate surgical approach for improving vision in these patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.306
Threshold uncertainty score0.616

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.285
Teacher spread0.270 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2024
Admission routes1
Has abstractyes

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