Molecular diagnosis: Implications for ophthalmology

• Molecular diagnosis can distinguish among causes of orbital inflammation.
• Molecular diagnosis confirms the heterogeneity of nonspecific orbital inflammation.
• Molecular analysis of tissue from patients with thyroid eye disease few markers of inflammation.

The effort to subdivide diseases and to individualize therapies based on characteristics of the patient has been labeled precision medicine. Jameson and Longo define precision medicine as “treatments targeted to the needs of individual patients on the basis of genetic, biomarker, phenotypic or psychosocial characteristics that distinguish a given patient from other patients with similar clinical presentations” (Jameson and Longo, 2015). We illustrate how molecular diagnosis can be applied to orbital inflammatory disease to achieve the goals of precision medicine.