Genetics of diabetic retinopathy

Hacer Isildak, Stephen G. Schwartz, Milam A. Brantley

Research output: Chapter in Book/Report/Conference proceedingChapter


Diabetic retinopathy is a complex disease, with both genetic and environmental contributing factors. Several approaches have been used to identify genetic determinants, including genetic linkage analysis, candidate gene studies, genome-wide association studies, and whole-exome sequencing. In addition, epigenetic factors and mitochondrial genes have been implicated. At this time, there are no validated associations that may be used in clinical care. However, these findings increase our understanding of the pathogenesis of diabetic retinopathy and potentially lead to new drug targets.

Original languageEnglish (US)
Title of host publicationGenetics and Genomics of Eye Disease
Subtitle of host publicationAdvancing to Precision Medicine
Number of pages16
ISBN (Electronic)9780128162224
StatePublished - Jan 1 2019
Externally publishedYes


  • Candidate gene studies
  • Diabetic retinopathy
  • Genetic linkage analysis
  • Genome-wide association studies
  • Whole exome sequencing

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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