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Subspecialties Retina

It’s All in the Genes

Paul Bernstein has spent 15 years working with macular telangiectasia type 2 (MacTel) patients – a rare inherited retinal disease that causes gradual loss of central vision in people over the age of 40. Bernstein’s job, along with others at the Lowy Medical Research Institute, was singular – to identify as many familial cases of MacTel as possible to aid in gene discovery. More than 250 patients enrolled in the program – part of an LMRI network of more than 30 centers around the world. It was one of those cases – a father and son – which led him to a breakthrough: a connection between HSAN1, a very rare hereditary sensory neuropathy, and MacTel.

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About the Author

Phoebe Harkin

Associate Editor of The Ophthalmologist

I’ve always loved telling stories. So much so, I decided to make a job of it. I finished a Masters in Magazine Journalism and spent three years working as a creative copywriter before itchy feet sent me (back)packing. It took seven months and 13 countries, but I’m now happily settled on The Ophthalmologist, where I’m busy getting stuck into all things eyeballs.

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