DEDICATED TO DISCOVERING THE CAUSES AND THE CURES FOR GLAUCOMA
The Fingert Lab has published the first cohort study of EFEMP1 mutations in JOAG patients.
We test our cohort of 72 JOAG patients and detected no glaucoma-causing EFEMP1 mutations. These results suggest that EFEMP1 mutations may be a cause of JOAG in rare pedigrees but are an uncommon cause of JOAG overall.
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.
Click here to see all of our publications on PUBMED
Select publications described below:
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