Phenotypic and Genotypic Analysis of Keratoconus (NA_00006544)

Keratoconus is a complex disease which the action of a diverse set of genes and environmental factors contributing to disease development and progression. We are utilizing multiple approaches to understand these factors to identify potential disease-specific changes in patients and develop novel therapies based on these findings.

To understand changes in genes and biological processes that contribute to disease we are sequencing DNA isolated from a small amount of blood drawn from keratoconus subjects. These sequences are then compared to control subject DNA from public databases

Our aim is to make participation as convenient as possible. If you are interested in this study, we can arrange for your visit to coincide with a pre-scheduled appointment to see a Johns Hopkins Wilmer cornea specialist. You will be asked to meet our study coordinator for about 20 to 30 minutes before the appointment. You will be given details of the study, and if you agree to participate you will be asked to provide an informed consent.

As a study participant:

• One of the physicians from the study team will examine your eyes. This involves taking photos of your cornea and measuring the thickness of your cornea. Eye drops will be placed in your eyes for this examination. If you just had an eye examination with a Hopkins/Wilmer cornea specialist, we will use the results from that visit.
• A trained professional may draw a small sample of your blood using standard techniques, as in a routine blood test.
• We may take a sample of your tear film. This will be done by removing a small amount of fluid from inside your lower eyelid, while taking care not to touch the surface of your eye.
• You will be asked to complete a one-page questionnaire.

 

A Comparison of the Corneal Epithelium in Progressive Keratoconus Patients and Healthy Myopic Controls (NA_00112675)

Collagen cross-linking (CXL) is a treatment designed to halt or slow down the progression of keratoconus. Any patient who is planned to undergo CXL for progressive keratoconus at Wilmer may choose to participate in this study and will be offered to do so by one of our corneal specialists. Participation in this study will not change the treatment protocol or the follow-up schedule.

The first step of CXL requires removal of the outermost layer of the cornea (the epithelium). This part of the eye is renewable so its removal does not cause any damage to the treated eye. The removed layer of epithelium is normally discarded if not used for research.

This study focuses on which genes are abnormally active or inactive in the epithelium of keratoconus patients. We predict that our research will provide a better understanding of the biological pathways that govern the keratoconus corneal epithelium. Our long-term goal is to find novel therapies for keratoconus and the first step to achieving this goal is identifying therapeutic targets. Our genomic studies of keratoconus are designed to do so.