Supporting Genetic and Molecular Research in Eye Disease

Preventing blindness in children through research, education and medical care.

With the recent dramatic advances in molecular genetic techniques, new genes that cause eye disease are rapidly being identified. Once such loci are identified and the gene cloned, new insights are provided as to the underlying mechanisms causing the disease process. In many instances, these findings allow researchers to develop innovative strategies for preventing or slowing the progress of genetic eye diseases.

At the third "Genetic Disease and the Eye" conference, sponsored and organized by the Cornea-Genetic Eye Medical Clinic, the chromosomal loci for most of the inherited corneal diseases were presented. Much work remains to be done, however, to actually locate the genes for these diseases.

Significant new information also was presented at the conference regarding discovery of the PAX 6 gene. This gene appears to play a role in the development of the eye and may be responsible for abnormal corneal development, which results in corneal opacities in infancy. We currently are preparing to start a large-scale molecular investigation in this area to better understand the role genes may play in causing congenital corneal opacities.

Image of eye with keratoconus. (14122 bytes) One disease which has been a major focus for research at our clinic for the past seven years is keratoconus, a degenerative disorder of the cornea that affects one out of every two thousand Americans and which can lead to progressive vision loss.

The cornea, which is the clear, front portion of the eye through which light passes to the lens and retina, is normally smooth and round. Corneas affected by keratoconus become uneven and cone-shaped, distorting vision and causing pain. The cornea also becomes progressively thinner over time, resulting in nearsightedness and astigmatism. Keratoconus is a leading cause for cornea transplants in western developed countries and, if severe cases are not successfully treated with corneal transplantation, this disorder may lead to functional blindness. Computer software program is used to detect keratoconus. (23135 bytes)

Through our pioneering efforts, we were the first to demonstrate that "early" forms of this disease can be detected in clinically normal patients. The diagnosis is achieved through the use of a sophisticated computer, which maps corneal shape in exquisite detail. We have designed a computer software program to be used worldwide for the purpose of detecting keratoconus at early stages. Our clinic also has become a major site for referral in ruling out subtle forms of this disease.

Through our epidemiological and genetic studies in collaboration with the CSMC Medical Genetics-Birth Defects Center, we were the first group to demonstrate that genetic factors play a major role in the cause of keratoconus. This year, we have commenced a large-scale molecular genetic investigation of families with the inherited form of keratoconus to pinpoint the gene locus in familial keratoconus. This information may allow us to devise therapy to retard the progression of the disease and prevent the need for cornea transplants in high-risk individuals.