DEDICATED TO DISCOVERING THE CAUSES AND THE CURES FOR GLAUCOMA
We published a review of normal tension glaucoma genetics manuscript
Summary: We review the genetic basis of normal tension glaucoma caused by mutations in the OPTN, TBK1, or MYOC genes. We also present novel long-term follow-up data and genotype-phenotype correlations for OPTN glaucoma. Read more about it in Progress in Retina and Eye Research here.
OUR MAJOR PROJECTS
AND NORMAL TENSION GLAUCOMA
We discovered that TBK1 gene duplications or triplications are one of the most common known causes of normal tension glaucoma. We continue to study how mutations in TBK1 cause glaucoma using human donor eyes, stem cell biology, and transgenic animals. Read more about this research here.
Familial Glaucoma—A Pedigree Revisited With Genetic Testing After 70 Years
JAMA Ophthalmology, 2022;140:543-544.
In this manuscript, we report detection of a MYOC mutation in a juvenile glaucoma pedigree first described by Dr. Frey and Dr. Posner in 1952. Read more about this manuscript here.
OUR MAJOR DISCOVERIES
• Discovery of the first glaucoma gene (MYOC)
• Discovery of a low pressure glaucoma gene (TBK1)
• Engineering transgenic mice that develop low pressure glaucoma due to TBK1 gene mutation
• Creating induced pluripotent stem cells (iPSCs) with TBK1 mutations
• First genetic studies of Ocular Hypertension Treatment Study (OHTS)
• First Exome study of Pigmentary Glaucoma