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Nicholas - Leber's Optic Patient Drucken E-Mail
Optic Disorders
Donnerstag, 04. Februar 2010 um 11:19 Uhr
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Nicholas Dorado

Age 17, USA


Diagnosis

Leber's Hereditary Optic Neuropathy

Check out Nicholas' video patient experience here.




Condition Prior to Treatment

Leber's Hereditary Optic Neuropathy (LHON) is a genetic disorder that affects vision. LHON is caused by a mutation in mitochondrial DNA, which is only passed on through the mother. The LHON mutation causes the degeneration of retinal ganglion cells and their axons. These cells are one of the first stops in the visual processing circuit in the brain. So, when they malfunction it leads directly to vision impairment. In general this leads to acute loss of central vision, meaning that LHON sufferers usually are not completely blind and have decent peripheral vision.

Even though LHON most often occurs across generations in a single family, Nick was the first person to be diagnosed in his family. Before his vision started to become worse around the time he was about 16 years old, he had been a star athlete and lead an active life.

In order to maintain Nick's quality of life, he and his relatives undertook extensive research about the disease and potential treatments. They were discouraged when they did not find any available in the USA, but this did not stop them from searching. When they discovered that another patient with LHON, Michell Gip, had already been to China for stem cell treatment. They decided that this was the best option available for Nick.

Treatment in China

Nicholas received 6 umbilical cord blood stem cell transplants. She also received physical therapy, occupational therapy, electric wave therapy and acupuncture.


Condition after Treatment

While at the hospital in China, Nick already started to see some small improvements in his sight. He explains,

"At the beginning I didn't notice anything, but also I'm not patient so I have to give it some time. The doctors were seeing differences by testing.. But now I am starting to see some differences. My left eye is now blurrier than my right. So I think my right eye is clearing up a little bit. So it looks like the blur might just fade away and one day I will be able to see again."

Nick also took Visual Evoked Potential Tests (VEP test) to measure the activity of his optic nerve and there was significant change before and after he received stem cell treatment in China.

Zuletzt aktualisiert am Montag, 24. Mai 2010 um 20:35 Uhr
 

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