Macular dystrophy is a hereditary condition
By Jessica Avetisian
Local Ophthalmologist Discovers New Gene Mutation
The ability to drive a car, recognize friends and family in public and see words on your computer, cell phone or on a printed page are a few of the many activities in our daily lives that depend heavily on the normal function of the macula; the part of the eye that deals with fine focus. Dr. Kent W. Small, an ophthalmologist who practices in Glendale and Los Angeles, has made an exciting discovery on a gene that directly effects the vision loss for individuals with an eye disease called North Carolina Macular Dystrophy (also known as MCDR1). Macular dystrophy is a hereditary condition, which is a type of macular degeneration.
For Kent Small, M.D., the formidable, 28-year search for the gene mutations causing the rare retinal disease known as North Carolina macular dystrophy (NCMD) was highly personal and career-defining.
“My first academic position after leaving Duke did not work out so well because, against the wishes of my chairman, I went to Marshfield, Wisconsin, for two weeks to learn genetic testing methods from Dr. James Weber to help find the NCMD genes,” recalls Dr. Small. “I made a commitment to the families with NCMD and became too deeply entrenched in the pursuit of this disease to ever give up. It consumed me sometimes at considerable cost personally, emotionally and financially.”
But thanks to his collaboration with 12 affected families and 20 researchers – including Ed Stone, M.D., Ph.D., at the University of Iowa, who provided powerful, state-of-the-art genetic discovery technologies for the effort – Dr. Small finally got his answer. Mutations involving the genes PRDM13 and IRX1 were identified as the culprit. The first mutations in both genes were difficult to find, because they were located outside of genetic regions known as exons, which code for proteins and are where disease-causing defects are most likely to occur. Results of the long-standing research project were published recently in the journal Ophthalmology…….
Source:Santa Monica Observer