Keratoconus Genetics Research Program

Background:
The Keratoconus Genetics Research Program at Cedars-Sinai Medical Center is the largest research program on Keratoconus of its kind in the world. It has been funded by the National Eye Institutes of Health for the past 15 years and recently the Principal Investigator Yaron S. Rabinowitz M.D. was awarded a 3.5 million dollar grant from the National Eye Institutes to continue this research until 2013.

Research Goal:
The goal of the research project is to identify genes contributing to the development of Keratoconus and using this information to ultimately to devise a cure by for this disease by means of gene therapy.

For a complete abstract of this grant proposal click here

For publications supported by this grant click here

Recruitment and Eligibility
We are actively recruiting patients for this study. Any patient with Keratoconus is eligible and typically there is no out of pocket cost for any patient choosing to participate


Benefits of Participation
There are several benefits awaiting individuals who participate in the Keratoconus Genetic Research Program:

  • We will supply your eye doctor with a computerized map of your cornea so as to facilitate obtaining a far better fit for your contact lenses.
  • We will monitor the status and/or progression of your Keratoconus, on an annual basis.
  • We may be able to identify which of your family members (if any) are at risk for developing Keratoconus.
  • We can give you advice on the very latest treatments for Keratoconus currently available
  • You will be eligible to be placed on a waiting list for a trial for gene therapy if this comes to fruition

How to Participate
To schedule an appointment, please contact our research coordinator Martha Bucaram at (310) 248-7471. or email her at bucaramm@cshs.org.

For directions click here

During your visit, which should take about 30 to 60 minutes, you will be asked to complete a questionnaire. An eye exam will be performed and computerized photos of your corneas will be taken. We may also request a blood sample from you which is optional and is not a requirement for participation in this study.  You will be given a complete evaluation by a cornea specialist and an expert in Keratoconus.

Convenient validated parking is available at our building.

Support
We can arrange for your to meet other patients with keratoconus who have had many contact lens changes or corneal transplants, so that you can discuss problems of common interest, share information, and better understand the treatment options that are available.


Keratoconus Research Overview

The Keratoconus Center is proud to offer more clinical trials for both treatment and understanding the basis of this disease than any other center in the world. Our clinical trials include:

  • The early treatment of keratoconus with INTACS and the Intralase laser.
  • Identifying genes in families with keratoconus.
  • PRK (photorefractive keratectomy) for keratoconus.
  • Treatment of mild to moderate keratoconus with INTACS and the Intralase laser.
  • Treatment of keratoconus with the Visian ICL.
  • Lamellar transplants in the treatment of  keratoconus.
  • Developing a molecular genetic test to diagnose keratoconus.
  • Videokeratography indices for detecting early keratoconus.


To date our research has significant contribution to the medical understanding, advances, and treatment of keratoconus. Our achievements include:

  • Developed a computer software to early detect keratoconus.
  • Identified the first molecular defect in keratoconus.
  • The first group to demonstrate keratoconus has a genetic basis.
  • The first group to publish and demonstrate that inserting INTACS with the Intralase laser is safer and more accurate than the mechanical technique.
  • The first group in Los Angeles to offer the Intralase laser for corneal transplants in patients with keratoconus.


To participate in our clinical trials please contact our research coordinator Martha Bucaram at 310-248-7471 or bucaramm@cshs.org.