The discovery provides a powerful investigative tool that could lead to therapies for this devastating eye disease, the leading cause of blindness in people over 50. Now we can look deeper for the genetic basis and molecular pathways of macular degeneration. Simon W.M. John, Muriel T. Davisson, and Bo Chang, with colleagues Adriana Zabaleta and Norman L. Hawes, all of The Jackson Laboratory.
Peripheral vision is often unaffected in the early stages of the disease.
The disease can progress very rapidly, sometimes in one eye, sometimes in both. Another type of hereditary macular degeneration targets children and teenagers. The spontaneous Bst mutation arose in 1977 in the C57BLKS inbred mouse strain at The Jackson Laboratory and was localized to a region on Chromosome 16. The strain has been useful in dermatology research and has long been known for its eye and skeletal defects attributed to developmental delay. Dr. Smith and his colleagues looked closer at aging Bst mice.