Rare (and Rarely Diagnosed) Diseases in Ophthalmology
Regulatory policies, combined with better screening tools, can broaden access to needed treatments
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By
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Neel Desai
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January 21, 2026
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Clinical Scorecard: Rare (and Rarely Diagnosed) Diseases in Ophthalmology
At a Glance
| Category | Detail |
|---|
| Condition | Rare ophthalmic diseases such as thyroid eye disease (TED), keratoconus, and neurotrophic keratitis. |
| Key Mechanisms | |
| Target Population | Patients with rare ophthalmic conditions, particularly those with TED, keratoconus, and neurotrophic keratitis. |
| Care Setting | |
Key Highlights
Guideline-Based Recommendations
Diagnosis
Management
- Consider cenegermin-bkbj (Oxervate) for neurotrophic keratitis.
- Cross-linking and corneal transplant for keratoconus as needed.
- Explore additional treatment options for keratoconus, such as scleral lenses.
Monitoring & Follow-up
Risks
Patient & Prescribing Data
High costs, limited awareness, and geographical distribution can hinder access to effective treatments.
Clinical Best Practices
- Incorporate routine corneal sensitivity testing in dry eye assessments.
- Educate clinicians and patients on recognizing early signs of rare ophthalmic diseases.
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