Rare (and Rarely Diagnosed) Diseases in Ophthalmology - Takeaways - 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

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  • 1

    The Orphan Drug Act incentivizes the development of therapies for rare diseases by providing faster FDA reviews and lower regulatory costs.

  • 2

    The FDA's Rare Disease Evidence Principles aim to expedite the review of therapies for very rare genetic diseases affecting fewer than 1,000 patients.

  • 3

    Ophthalmic conditions like thyroid eye disease and keratoconus are often underdiagnosed, leading to missed treatment opportunities for patients.

  • 4

    Effective screening for rare ophthalmic diseases can be achieved with simple tools, such as corneal sensitivity tests, which are often overlooked.

  • 5

    Despite the availability of treatments, many patients with rare eye diseases remain untreated due to a lack of clinician awareness and training.

Original Source(s)

Rare (and Rarely Diagnosed) Diseases in Ophthalmology

  • by Neel Desai

  • January 21, 2026

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