Optimizing Patient Selection for Panel-Based Molecular Diagnosis in Inherited Retinal Disease: A Health…

Cross-sectionalOphthalmic epidemiology· Jul 2026

Optimizing Patient Selection for Panel-Based Molecular Diagnosis in Inherited Retinal Disease: A Health Economics-Oriented Taiwanese Cohort Study.

Ting-Yi Lin, Ching-Yun Wang, Lawrence Chen … Shun-Ping Huang

RetinaCross-sectionalDiagnosisQ1IF 1.9

Severe vision loss in the worse eye most strongly predicts a positive genetic diagnosis in inherited retinal disease.

Optimizing Patient Selection for Panel-Based Molecular Diagnosis in Inherited Retinal Disease: A Health Economics-Oriented Taiwanese Cohort Study.

Ting-Yi Lin … Shun-Ping Huang

Ophthalmic epidemiology · Jul 2026 · Q1 in Ophthalmology

Purpose

To determine whether the clinical characteristics of IRD patients are associated with the positive molecular diagnosis.

Methods

With clinical IRD suspicion aged between 0 and 96 years with no previous genetic diagnosis were enrolled.

n = 492 patients

Results

OR 4.80

worse eye's vision loss severe strongly raised odds of a genetic diagnosis

n = 492 patients

More results

The mean age at first visit was 49.5 years, and 245 patients (49.8%) were male.

Positive genetic results were observed in 67 of 72 patients (93.1%) with onset age < 10 years, compared with 18 of 28 (64.3%) in those with onset age ≥ 50 years.

More results

Positive results were also more common in patients with a positive IRD family history, 136 of 162 (84.0%), compared with those without a family history, 138 of 179 (77.1%).

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Conclusion · 1 of 2

We discovered key patient-level demographic and clinical factors associated with increased odds of obtaining a molecular diagnosis.

Conclusion · 2 of 2

This study supports further evaluations of clinical characteristics that can improve the cost-benefit of panel-based genetic testing for IRD, paving the way for efficient genetic diagnostics and identifying high-risk panel-undiagnosable patients to pursue more advanced sequencing platforms.

Optimizing Patient Selection for Panel-Based Molecular Diagnosis in Inherited Retinal Disease: A Health Economics-Oriented Taiwanese Cohort Study.

Optimizing Patient Selection for Panel-Based Molecular Diagnosis in Inherited Retinal Disease: A Health Economics-Oriented Taiwanese Cohort Study.

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