Identifying Genes for Keratoconus
This is part of an ongoing study supported by the National Eye Institutes of Health over the past 15 years. In this study all patients with keratoconus and their family members under videokeratography (detailed topographic pictures of their cornea) and family pedigrees and data are entered into a database. Blood is also drawn from family members for molecular storage and molecular genetic analysis. We hope one day to identify a gene for keratoconus and find a means of retarding its progression early on in the disease. To date we have identified a gene locus on chromosome 5 in one large family with keratoconus (click here to view PDF of publication for details) and multiple other loci in sib pair analysis of keratoconus families. These loci may all contain genes providing clues to the underlying mechanism of the disease process in keratoconus. We are particularly interested in individuals who have a family history of keratoconus or at least one family member with keratoconus. All study related costs are free, however, if patients opt to have treatment, they will be charged a discount off normal costs.

Developing a Molecular Genetic Test for Keratoconus
By examining corneal transplant buttons on patients upon whom we performed corneal transplants we detected a molecular defect in patients with keratoconus – the absence of a water protein – Aquaporin 5 (AQP5). We hope to develop this into a molecular genetic test for  ‘early’ detection of keratoconus. This will be particularly useful in family members of patients with keratoconus and patients with suspicious topography labeled ‘keratoconus suspect’. We ask all our patients upon whom we perform corneal transplants to donate their diseased corneas for molecular genetic analysis. If we perform your transplant and you agree to donate your cornea you will be making a critical contribution toward increasing our knowledge and understanding of keratoconus.

Videokeratography Indices for Detecting ‘Early’ Keratoconus
Our center is a large referral center for patients who are suspected for having keratoconus with either suspicious topography or clinical signs. We see approximately 20 such consults each week. We have developed computerized software with indices, which are critical in helping us make a decision as to whether it is safe to recommend patients proceed with laser refractive surgery. Development of this software has been dependant on developing a large database of normal patients and patients with suspected ‘early’ disease’ and following such patients longitudinally over time. Data from all patients who visit us for referral are entered into databases for ongoing evaluation and refinement of these indices.

If you are interested in participating in our clinical trials please contact our research coordinator Martha Bucaram at 310-248-7471 or bucaramm@cshs.org.