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Local Doc: Macular dystrophy is a hereditary condition, which is a type of macular degeneration.

Local Ophthalmologist Discovers New Gene Mutation

 

Kent Small M.D.

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.

These findings are so significant that Dr. Small has been invited as a keynote speaker of the Global Ophthalmology Meeting on July 18, 2016 and an invited speaker at the American Academy of Ophthalmology meeting in October 2016In addition, Dr. Richard G. Weleber wrote an editorial in the Journal Ophthalmology of the American Academy of Ophthalmology in January issue of 2016 stating that this is "one of the most important studies in our field in the past several decades."

Dr Small began working on this disease 28 years ago when he encountered a patient at DUKE University with this disease at the Oteen VA Hospital. Early on his research was funded by NIH but the last 14 years it has been funded by himself and his non-profit organization. Within the last year, with the help of colleagues at University of Iowa and the Stephen Wynn Institute for Vision Research they were finally able to find and confirm the mutations causing the disease.

Eye with Macular Corneal Dystrophy

What's more exciting is that it opens the doors for future research on similar mutations. The gene affected is involved in the development of the human macula and opens a new pathway for research into future therapeutics. North Carolina Macular Dystrophy has several similarities to Age Related Macular Degeneration, the number one leading cause of blindness in the United States for individuals about the age of 65. Therefore, understanding the MCDR1 gene will shed light on and contribute to future discoveries on the development of treatment and management of age-related macular degeneration. MCDR1 and Age Related Macular Degeneration can be diagnosed after examination by your ophthalmologist. Dr. Small is one of the world's leading specialists on these diseases.

Dr. Small is very proud of his findings and expects to expand his research in the future and hopes that outside funding becomes available to offset his personal expenditures. Dr. Small has established a non-profit corporation to help fund his future research.

 

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