Rare (and Rarely Diagnosed) Diseases in Ophthalmology

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

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The Orphan Drug Act incentivizes the development of therapies for rare diseases by providing faster FDA reviews and lower regulatory costs.
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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.
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Ophthalmic conditions like thyroid eye disease and keratoconus are often underdiagnosed, leading to missed treatment opportunities for patients.
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Effective screening for rare ophthalmic diseases can be achieved with simple tools, such as corneal sensitivity tests, which are often overlooked.
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Despite the availability of treatments, many patients with rare eye diseases remain untreated due to a lack of clinician awareness and training.

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