The transcription factor MITF in RPE function and dysfunction

Prog Retin Eye Res. 2019 Nov;73:100766. doi: 10.1016/j.preteyeres.2019.06.002. Epub 2019 Jun 23.


Dysfunction and loss of the retinal pigment epithelium (RPE) are hallmarks of retinal degenerative diseases in mammals. A critical transcription factor for RPE development and function is the microphthalmia-associated transcription factor MITF and its germline mutations are associated with clinically distinct disorders, including albinism, microphthalmia, retinal degeneration, and increased risk of developing melanoma. Many studies have revealed new insights into central roles of MITF in RPE cell physiology, including melanogenesis, regulation of trophic factor expression, cell proliferation, anti-oxidant functions, and the visual cycle. In this review, we discuss the complex functional roles of MITF in RPE development, homeostasis, and retinal degeneration and touch upon key questions and challenges in neuroprotective strategies for retinal degenerative disorders associated with deficiencies in MITF or its many target genes.

Keywords: Melanocyte; Microphthalmia; Retinal degeneration; Retinal pigment epithelium.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Gene Expression Regulation / physiology
  • Humans
  • Microphthalmia-Associated Transcription Factor / physiology*
  • Retinal Degeneration / physiopathology*
  • Retinal Pigment Epithelium / physiology*


  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor