Researchers Identify Blindness Gene

Two Harvard Medical School opthalmologists are among a number of researchers who recently identified a gene responsible for one form of blindness.

Retinitis pigmentosa (RP), which affects 100,000 people in the U.S. and approximately 1.5 million worldwide, is caused by mutations in the identified gene, say researchers Eliot L. Berson, Chatlos professor of ophthalmology, and Thaddeus P. Dryja, associate professor of ophthalmology.

The scientists found the gene after studying patients with RP and comparing their genes with those of mice blinded by the disease. Both work at the Massachusetts Eye and Ear Infirmary in Boston.

The gene is responsible for the production of peripherin, a protein necessary for normal operation of light-sensitive cells in the retina.

The disease was independently traced to the same gene by researchers at Trinity College in Dublin, Ireland.