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The Ophthalmologist / Issues / 2026 / January / Rare and Rarely Diagnosed Diseases in Ophthalmology
Research & Innovations Opinions Voices in the Community

Rare (and Rarely Diagnosed) Diseases in Ophthalmology

Regulatory policies, combined with better screening tools, can broaden access to needed treatments

By Neel Desai 1/21/2026 6 min read

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Clinical Scorecard: Rare (and Rarely Diagnosed) Diseases in Ophthalmology

At a Glance

CategoryDetail
ConditionRare ophthalmic diseases such as thyroid eye disease (TED), keratoconus, and neurotrophic keratitis.
Key Mechanisms
Target PopulationPatients with rare ophthalmic conditions, particularly those with TED, keratoconus, and neurotrophic keratitis.
Care Setting

Key Highlights

  • key_mechanisms

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.

        References

        • IRIS Registry Report

        This content is an AI-generated, fully rewritten summary based on a published scholarly article. It does not reproduce the original text and is not a substitute for the original publication. Readers are encouraged to consult the source for full context, data, and methodology.

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