Rare (and Rarely Diagnosed) Diseases in Ophthalmology
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By
January 21, 2026
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8 min
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1
Orphan Drug Act incentivizes development of rare disease therapies.
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2
FDA introduced RDEP for faster approval of rare therapies.
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3
Underdiagnosis remains prevalent in conditions like keratoconus and neurotrophic keratitis.
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4
Mobile screening programs can enhance early detection in communities.
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5
Increased awareness among clinicians is crucial for effective diagnosis and treatment.
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The US healthcare system incentivizes the development of therapies for prevalent diseases, often neglecting less common conditions due to financial limitations. The Orphan Drug Act (ODA) encourages the development of treatments for rare diseases by providing regulatory advantages. Despite these efforts, underdiagnosis remains a significant issue, particularly in ophthalmology, where conditions like neurotrophic keratitis and keratoconus are often missed. Increased awareness and screening initiatives, such as mobile programs for high school students, are crucial for early detection and effective treatment. Dr. Neel R. Desai advocates for better training and protocols to recognize and manage these orphan diseases effectively.
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1
Orphan Drug Act incentivizes development of rare disease therapies.
-
2
FDA introduced RDEP for faster approval of rare therapies.
-
3
Underdiagnosis remains prevalent in conditions like keratoconus and neurotrophic keratitis.
-
4
Mobile screening programs can enhance early detection in communities.
-
5
Increased awareness among clinicians is crucial for effective diagnosis and treatment.
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