Lacrimal Gland Hypoplasia and Corneal Anesthesia in MIRAGE Syndrome: A Case Report and Literature Review
Bibliographic record
Abstract
PURPOSE: The purpose of this report was to describe the ocular findings in Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (MIRAGE) syndrome, a multisystem congenital disorder. METHODS: This was a case report and literature review. RESULTS: An infant with MIRAGE syndrome (combined immunodeficiency with recurrent infections, growth restriction, adrenal insufficiency, 46,XY karyotype with hypovirilization, dysphagia, gastroesophageal reflux disease, and dysautonomia) underwent ophthalmological evaluation because of persistent conjunctivitis during his 8-month admission in the neonatal intensive care unit. His parents noted absence of tears when crying since birth. Bilateral broad corneal epithelial defects were noted, and treatment was initiated with frequent lubricating ointment. At 9 months, his vision was estimated at 20/380 in both eyes using Teller Acuity Cards. There were persistent bilateral epithelial defects, confluent punctate epithelial erosions, low Schirmer strip wetting (right eye 3 mm and left eye 2 mm), and decreased corneal sensation. Brain magnetic resonance imaging images demonstrated hypoplastic lacrimal glands bilaterally. More aggressive lubrication and installation of punctal plugs in all 4 lids were successful at preventing further epithelial defects. CONCLUSIONS: This case presents deficient lacrimation as a manifestation of MIRAGE syndrome and is the first to identify lacrimal gland hypoplasia and corneal anesthesia. Autonomic and neurologic dysfunction have been proposed to play a role in the pathophysiology of hypolacrimation in similar syndromes and likely contributed to the poor ocular surface in this case. Patients with MIRAGE should undergo ophthalmic assessment as soon as possible after birth because early intervention is essential to preventing irreversible corneal damage.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.006 | 0.005 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".