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Record W1998628089 · doi:10.1097/icb.0000000000000079

BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA—STRUDWICK TYPE

2014· article· en· W1998628089 on OpenAlexaff
Andrei-Alexandru Szigiato, Roxane J. Hillier, Rajeev H. Muni

Bibliographic record

VenueRetinal Cases & Brief Reports · 2014
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicConnective tissue disorders research
Canadian institutionsSt. Michael's HospitalUniversity of Toronto
Fundersnot available
KeywordsMedicineRetinal detachmentVitrectomyOphthalmologyPars planaRetinalVisual acuityAsymptomaticDysplasiaSurgeryPathology

Abstract

fetched live from OpenAlex

In Brief Purpose: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia—Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen. Methods: Case report. Results: A 13-year-old patient diagnosed with spondyloepimetaphyseal dysplasia—Strudwick type presented with a localized superior temporal retinal detachment in the right eye and a 180° giant retinal tear with an associated macula-off retinal detachment in the left eye. He was highly myopic and had a visual acuity of 20/80 in the right eye and counting fingers in the left eye. He underwent a pars plana vitrectomy in the left eye and laser retinoplexy in the right eye, achieving complete reattachment and/or stabilization of both retinae, with a visual acuity of 20/60 in the right eye and 20/100 in the left eye at 3 months postoperatively. Conclusion: Patients with spondyloepimetaphyseal dysplasia—Strudwick type may be at a higher risk of developing myopia, vitreoretinal degeneration, and a subsequent retinal detachment, although the scientific literature provides a loose association between these conditions. Critically, we propose a temporal association between retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia—Strudwick type to detect any asymptomatic retinal pathology. This case report documents the clinical course of a 13-year-old boy with spondyloepimetaphyseal dysplasia—Strudwick type, a rare autosomal dominant disorder affecting the production of Type II collagen, who experienced bilateral retinal detachments. Puberty is discussed as a risk factor for retinal detachment in patients with this disorder.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.382
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
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)0.0000.000

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 head0.014
GPT teacher head0.291
Teacher spread0.277 · 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.

Study designObservational
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

Citations1
Published2014
Admission routes1
Has abstractyes

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