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MYOC Glaucoma

We discovered the first glaucoma gene, myocilin (MYOC). MYOC mutations cause 3-4% of glaucoma worldwide and are the most common known cause of glaucoma.

  • We identified the first glaucoma-causing mutations in myocilin. Read more here.

  • We described the clinical features of glaucoma associated with myocilin mutations. Read more here.

  • We discovered how myocilin mutations cause glaucoma. Read more here.

  • We conducted the first histological analysis of a myocilin glaucoma patient's eye. Read more here.

  • We report CRISPR/Cas9 genome editing of myocilin mutations in mice. Read more here.

  • Access all of our myocilin research articles here.

  • We offer non-profit myocilin testing in our CLIA-certified diagnostic laboratory - The Carver Labs.

Myoc Figure 1 FINAL crop.tiff

TBK1 Glaucoma

We discovered that TBK1 gene duplications and triplications are associated with glaucoma that occurs at average or low eye pressures.

  • We identified the first glaucoma-causing mutations in TBK1. Read more here.

  • We identified the long-term clinical course of glaucoma associated with TBK1 mutations. Read more here.

  • We used genome sequencing to map the TBK1 gene duplications in several patients. Read more here.

  • We created transgenic mice that have glaucoma due to TBK1 gene duplications  Read more here.

  • We grew retinal ganglion cells (optic nerve tissue) from a TBK1 glaucoma patient's skin. Read more here.

  • Access all of our TBK1 research articles here.

Genetic analysis of the OHTS

The Ocular Hypertension Treatment Study (OHTS) was a landmark clinical trial that demonstrated the efficacy of lowering eye pressure in preventing or delaying the onset of glaucoma. We are conducting genetic analyses of the OHTS participants to identify which genetic risk factor genes have greatest influence on the probability for developing glaucoma. Read about our analysis of the TMCO1 gene here.

GABRG2 risk allele in the OHTS_edited.jpg
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