Researchers from the Baylor College of Medicine, the University of Utah, the Howard Hughes Medical Institute at Johns Hopkins University, and the National Cancer Institute all collaborated toward the exciting news of isolating the gene which, when altered or "mutated," causes the recessive form of Stargardt's disease and fundus flavimaculatus.

We at MDl are proud to say we have played a small part in this collaboration. Since 1991, many members of our organization have participated in efforts to isolate this gene for Stargardt's disease. Members from scores of families have shared records of eye examinations, retina photographs, along with an irreplaceable resource, a blood sample, to allow researchers to trace the passage of genes responsible for causing this retinal disorder.

We want to thank the families who have been patient and supportive while this work has been going on for the last 10 years. 'This discovery gives us the first glimpse into how Stargardt's disease attacks the eye," said Dr. Richard Lewis, professor of Ophthalmology at Baylor. "This gene will provide better tools to assist in early diagnosis and a better understanding of the mechanisms and the cause of this disease," Lewis said.

The disease often goes undiagnosed or misdiagnosed in the first few years of onset due to minimal findings during eye examinations. The gene may aid in a test for the direct diagnosis of the disease. It is possible that the gene's effect may not be limited to juvenile macular degeneration, thus this discovery may aid in the search for causes for age-related or adult onset Macular Degeneration, the leading cause of vision loss in people over age 65. (See Age Related in this web site.)

next page

back