Molecular diagnosis: Implications for ophthalmology

Prog Retin Eye Res. 2016 Jan:50:25-33. doi: 10.1016/j.preteyeres.2015.11.001. Epub 2015 Dec 1.

Abstract

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.

Keywords: Granulomatosis with polyangiitis; Molecular diagnosis; Nonspecific orbital inflammatory disease; Sarcoidosis; Thyroid eye disease; Transcriptomics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biopsy
  • Diagnosis, Differential
  • Gene Expression Profiling / methods
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Ophthalmology / methods
  • Orbital Diseases / diagnosis*
  • Precision Medicine / methods