LHON

Stars' Eyes: Marcelo Lusardi

There are many things in life that look a lot easier than they actually turn out to be once you try them. Surfing. Golf. Writing poetry.

Skateboarding is one of these things. Have you tried it before? Pretty tough, right? Now, imagine doing it blind.

That's exactly what Marcelo Lusardi, a 19-year-old from Santiago de Compostela, Spain, does, ever since he lost vision a few years ago due to Leber hereditary optic neuropathy (LHON).

LHON is a genetic disorder caused by mutations in mitochondrial DNA. Mitochondria, as you may remember from science class, are the "power houses" of our cells, where energy (ATP) is generated, and they contain special DNA which we all inherit exclusively from out mothers. People with LHON typically develop severe painless central vision loss in one eye, often in their teens or 20s.

As if this weren't devastating enough, the other eye usually follows the same course, losing vision a few weeks or months later. This happens in LHON because the energy production in the optic nerves becomes inadequate, causing the ganglion cells within the nerve to die. Although supplementary coenzyme Q-10 (idebenone), combined with avoidance of alcohol and tobacco, may prevent further vision loss, there is at present no way to restore vision for a person who has lost it due to LHON.

Here is a poignant video about Marcelo, entitled "The Blind Rider." My favorite part? 

I used to skateboard. I went blind. Iā€™m still skateboarding. . . . I realized that skateboarding was what I love most in life, and that I was going to keep doing it, come what may.

Stars' Eyes: Jeremy Poincenot

Over the past year or so, on my Facebook and Instagram accounts, I've shared dozens of short posts with the tag "Stars Eyes Sunday," describing a famous person with an eye disease. These were popular posts, and I plan to continue sharing similar stories on this blog. Here's the first!

Jeremy Poincenot ("Points-en-oh") was a 19-year-old college sophomore at San Diego State when he suddenly lost his central vision in his right eye, followed shortly thereafter by his left. He was diagnosed with a rare optic nerve disorder, called Leber hereditary optic neuropathy (LHON).

LHON is a genetic condition caused by mutations in the DNA within mitochondria. Patients with LHON typically develop sudden, painless, central vision loss in one eye, followed weeks later by the other eye. The likelihood of developing LHON in a person who carries the mutation depends in part on what fraction of their mitochondria, the energy-producing organelles within each cell, harbor the genetic change. LHON occurs most frequently in young males, but females and much older patients can be affected, as well.

Jeremy hasn't let his severe vision loss hamper his love of the links. In fact, just today, he won the United States Blind Golf Association's National Championship! Jeremy has been featured on ABC's 20/20, MTV, and GolfWorld, and his website can be found here.

Jeremy Poincenot, winner of the 2016 US Blind Golf Championship, as shared on his  Twitter account .

Jeremy Poincenot, winner of the 2016 US Blind Golf Championship, as shared on his Twitter account.