SUMMARY
As a corneal specialist, Keith H. Baratz, M.D., has specific interest in Fuchs' corneal dystrophy and the outcomes of corneal transplantation surgery. Fuchs' corneal dystrophy is a very common inherited condition resulting in vision loss through loss of corneal clarity. Corneal transplantation is currently the only therapeutic option for Fuchs' dystrophy, and it is the most common indication for corneal transplantation. Despite the high frequency of the disease, research into its genetic causes and the biochemical mechanisms are still at a relatively preliminary stage.
In order to uncover some of the basic aspects of the disease, Dr. Baratz has focused his research on the genetic causes of Fuchs' dystrophy. He and his colleagues have identified the genetic defect (Transcription factor 4) that is probably the major contributor to the disease in most families.
His current research involves the analysis of disease transmission within families and evaluation of genetic tests to identify young individuals at risk. He is also studying tissue specimens and cultured cells to identify how genetic defects lead to corneal disease.
Dr. Baratz and other investigators at Mayo Clinic hope to expand their research to include the identification of other potential genes affecting Fuchs' dystrophy and to identify biochemical targets for eventual disease prevention through drug, stem cell or gene therapy rather than surgery.
Dr. Baratz is also involved in the analysis of the outcomes of corneal transplantation with specific emphasis on the evaluation of newer, more selective forms of corneal transplants. In conjunction with Drs. Sanjay V. Patel, M.D., and Jay W. McLaren, Ph.D., they have published extensively, giving insight into how different types of corneal transplant procedures restore vision and identifying areas of potential improvement.
Focus areas
- Identification of the genes involved in Fuchs' corneal dystrophy.
- Family studies of the inheritance patterns of Fuchs' corneal dystrophy.
- Analysis of the effect of trinucleotide expansion on the expression of Transcription factor 4 and its protein in corneal endothelial tissue samples and in cell culture.
- Outcomes and vision function after corneal endothelial transplantation.
Significance to patient care
Identification of the genes causing Fuchs' dystrophy is the first step in understanding how the disease develops. Ultimately, nonsurgical treatments may be developed once the basic disease mechanisms are understood. Identifying patients at risk through genetic tests allows targeted treatment of individuals prior to the development of vision loss.
In addition, a variety of corneal conditions are treated by corneal transplantation. New procedures have improved the outcome of this surgery, but limitations in the quality of vision remain. Dr. Baratz and his colleagues have identified the causes and severity of these limitations. This research serves as a basis for comparison for future corneal transplantation techniques and also helps to establish the methods by which these procedures may be evaluated.
Professional highlights
- American Academy of Ophthalmology Achievement Award, 2012
- Board of Directors, American Board of Ophthalmology, 2010-present
- Editorial board member and section editor for the journal JAMA Ophthalmology, 2008-present