Clinical Research Studies

Keratoconus is a disease in which the cornea is abnormally steep and thin. It affects approximately 1 in 2000 individuals and usually begins in the second decade of life. Keratoconus is a progressive disorder which results in loss of vision that cannot be alleviated by contact lenses or glasses alone, and is a leading indication for corneal transplantation in developed countries (Udar et al., IOVS 47: 3445-3351, 2006). Keratoconus has a strong genetic component, and while several genes are suspected clear causative genes and underlying pathogenic processes have not been identified yet. We will enroll isolated keratoconus and familial cases and unaffected members of the families when available. The goal of our research is to identify genes that harbor mutations that contribute to keratoconus and underlying biochemical processes that are altered as a result and contribute to keratoconus pathogenesis. The subject population consists of individuals diagnosed with keratoconus and unaffected relatives in families. Individuals/families are ascertained through support groups, web-based listings of research studies and genetic testing services, and a keratoconus research website that Dr. Chakravarti and other team members maintain. The identities of the study participants will be known only to Dr. Chakravarti, the study coordinator, physicians in the team and the post-doctoral fellow(s) working directly on the project. DNA, lymphocytes, and lymphoblastoid cell lines may be prepared from the blood samples for future use. Molecular analysis using markers and sequencing, and statistical analysis of these data, will be used to identify regions of human chromosomes where putative keratoconus disease genes reside. Analyses of DNA sequences of all coding region of genes from keratoconus subjects compared to published control subjects DNA will be performed to identify disease specific variants. Additionally to understand disease pathogenesis, subsets of patients may be asked to provide tear samples or impression cytology of their conjunctiva (a thin tissue paper is placed under the eyelid area and lifted off which brings small number of patient cells that can be visualized by histology). Study subjects will not directly benefit from participation; the purpose of the study is to better understand the etiology of keratoconus, leading to improved detection, treatment, and management. Results will not be disclosed to participants nor their health care providers, unless medically relevant.