Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.
- 1Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
- 2Center for Preventive Ophthalmology and Biostatistics, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
Abstract
Purpose
To compare ocular diagnoses in adults with and without homocystinuria (HCU), including vitreous degeneration in a large, real-world cohort.Design
Retrospective propensity score-matched cohort study.Participants
658 adults with HCU and 658 propensity score-matched controls without HCU.Methods
Using the U.S. TriNetX Research Network, patients with HCU were matched to controls by demographic characteristics and systemic comorbidities associated with ocular disease. Outcomes included cataract, glaucoma, dry eye disease, vitreous degeneration, myopia, and age-related macular degeneration. Patients with the corresponding diagnosis before the ophthalmic index encounter were excluded from primary time-to-event analyses. Cox models estimated hazard ratios (HRs); log-rank P values were Holm-adjusted across six outcomes. A secondary analysis included diagnoses recorded before or after index.Results
Vitreous degeneration was recorded after index in 45/581 patients with HCU (7.75%) and 29/607 controls (4.78%). HCU was associated with a higher risk of first recorded vitreous degeneration (HR, 1.77; 95% CI, 1.11-2.82; nominal P = 0.016), but not after Holm correction (adjusted P = 0.094). HCU was not significantly associated with other common eye diseases including cataract, glaucoma, AMD, myopia, and DED. Ectopia lentis could not be meaningfully evaluated because the number of recorded cases was below the TriNetX minimum reportable sample size. In the secondary analysis, vitreous degeneration was recorded in 74/658 patients with HCU (11.25%) and 50/658 controls (7.60%; prevalence ratio, 1.48; 95% CI, 1.05-2.08; nominal P = 0.024).Conclusion
HCU was associated with a higher risk of vitreous degeneration, but the primary association did not remain significant after multiplicity correction. Prospective studies using standardized ophthalmic assessments are needed to determine whether this signal represents a reproducible HCU-related vitreous phenotype.
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BibTeX
@article{zemberi2026recorded,
title = {{Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.}},
author = {Justus Zemberi and Julian Peregoff and Gui-Shuang Ying},
journal = {AJO international},
year = {2026},
month = aug,
doi = {10.1016/j.ajoint.2026.100308},
url = {https://europepmc.org/article/MED/42846450},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Recorded ocular diagnoses in adults with homocystinuria: A propensity score-matched cohort study.
AU - Justus Zemberi
AU - Julian Peregoff
AU - Gui-Shuang Ying
PY - 2026
DA - 2026/08/31
JO - AJO international
DO - 10.1016/j.ajoint.2026.100308
UR - https://europepmc.org/article/MED/42846450
AB - Purpose To compare ocular diagnoses in adults with and without homocystinuria (HCU), including vitreous degeneration in a large, real-world cohort.Design Retrospective propensity score-matched cohort study.Participants 658 adults with HCU and 658 propensity score-matched controls without HCU.Methods Using the U.S. TriNetX Research Network, patients with HCU were matched to controls by demographic characteristics and systemic comorbidities associated with ocular disease. Outcomes included cataract, glaucoma, dry eye disease, vitreous degeneration, myopia, and age-related macular degeneration. Patients with the corresponding diagnosis before the ophthalmic index encounter were excluded from primary time-to-event analyses. Cox models estimated hazard ratios (HRs); log-rank P values were Holm-adjusted across six outcomes. A secondary analysis included diagnoses recorded before or after index.Results Vitreous degeneration was recorded after index in 45/581 patients with HCU (7.75%) and 29/607 controls (4.78%). HCU was associated with a higher risk of first recorded vitreous degeneration (HR, 1.77; 95% CI, 1.11-2.82; nominal P = 0.016), but not after Holm correction (adjusted P = 0.094). HCU was not significantly associated with other common eye diseases including cataract, glaucoma, AMD, myopia, and DED. Ectopia lentis could not be meaningfully evaluated because the number of recorded cases was below the TriNetX minimum reportable sample size. In the secondary analysis, vitreous degeneration was recorded in 74/658 patients with HCU (11.25%) and 50/658 controls (7.60%; prevalence ratio, 1.48; 95% CI, 1.05-2.08; nominal P = 0.024).Conclusion HCU was associated with a higher risk of vitreous degeneration, but the primary association did not remain significant after multiplicity correction. Prospective studies using standardized ophthalmic assessments are needed to determine whether this signal represents a reproducible HCU-related vitreous phenotype.
SN - 2950-2535
ER -