January 10, 2004.
San Antonio News Channel.
Scientists believe genetics may be responsible for up to half of all macular degeneration cases. They also think that there are likely many genes that cause the condition.
Her hearing is as sharp as ever, but Ruth Oster has trouble reading music.
The 71-year-old violin teacher suffers from the common dry form of age-related macular degeneration. The cells in the central region of her retinas have died.
"There's fuzziness right in the very center of where I look," Oster said.
Macular degeneration runs in Oster's family. Scientists recently discovered that half of her family members have a particular gene mutation called hemicentin 1.
"Everyone who had the disease basically carries this, this chromosome and everyone who didn't have the disease yet, did not carry this mutation," molecular geneticist Dennis Schultz said.
"The macula, which is this very central part of the retina in the back," Schultz said.
Scientists believe genetics may be responsible for up to half of all macular degeneration cases.
They also think that there are likely many genes that cause the condition. However, this one discovery in Oster's family is significant and could eventually lead to a cure.
"Well, several years. I mean it'll, it'll take us a lot," Schultz said.
"There's a lot more we have to learn about this gene and about the other genes that cause AMD and that are involved in AMD before we're going to be able to do this, but I mean every little bit helps and finding out this is just one step along the road," Schultz said.
With this promising medical advance, Oster is hopeful for a cure.
"That's the big hope and we hope they hurry up," Oster said.
Discovery of the mutation in the gene was made by scientists at the macular degeneration center at Oregon Health & Science University's Casey Eye Institute.
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