Rare (and Rarely Diagnosed) Diseases in Ophthalmology - Scorecard - MDSpire

Rare (and Rarely Diagnosed) Diseases in Ophthalmology

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

  • By

  • Neel Desai

  • January 21, 2026

  • 8 min

Share

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

        Original Source(s)

        Rare (and Rarely Diagnosed) Diseases in Ophthalmology

        • by Neel Desai

        • January 21, 2026

        Related Content

        Industry Pros Honored With GSLS Awards

        The 2026 recipients of the Global Specialty Lens Symposium (GSLS) Awards were honored on January 8 at the annual meeting in Las Vegas. Patrick Caroline received the Award of Excellence, and Maria K. Walker, OD, PhD, received the Rising Star Award.

        Seeing the Halo

        Researchers evaluate a novel optical phenomenon that could expand the clinical value of slit-lamp examination in keratoconus

        • April 27, 2026

        • 3 min
        Which Lens Wins in Keratoconus? 

        This study reveals how choosing the right contact lens can significantly enhance visual outcomes for keratoconus patients.