When Genetics Holds the Key: Restoring the Gift of Sight

I completed part of my medical training in South Africa, and I vividly remember one of my professors teaching us to look beyond a diagnosis. When discussing a patient, he would begin with anatomy, then examine how the disease affected the body biochemically, physiologically, and even genetically.

That approach made a lasting impression on me and is one of the reasons I have continued studying the genetic components of disease throughout my career.

Recently, a woman came to see me who was rapidly losing her vision. She had virtually no night vision. After dark, her husband had to guide her through the house and lead her to bed because she simply could not see where she was going. She described her bed as looking like “a pile of leaves.” During the day, colors appeared dull and drab, and she experienced disturbing flashes and flickers of light in her eyes.

Most concerning was how quickly her vision seemed to be deteriorating.

She had already seen several specialists without finding an explanation. Eventually, testing by an eye specialist revealed something significant: her Vitamin A level was extremely low.

But there was a mystery. She was eating a healthy diet that included plenty of vegetables containing beta-carotene and other sources of Vitamin A precursors. Why, then, was her body still so deficient?

When she came to my office, I went back to what my professor had taught me years ago: look at the anatomy, physiology, biochemistry, and genetics.

I reviewed her 23andMe genetic data, going through page after page of genetic information. There were variants involving BCMO1, VDR-related, and GC genes—genes associated with nutrient metabolism and, in the case of BCMO1, the conversion of beta-carotene into active Vitamin A.

This provided an important clue as to why simply eating more Vitamin A-rich vegetables might not have been enough for her.

We developed a strategy using liquid Vitamin A combined with a Young Health protein concentrate to create an emulsion designed to improve its delivery and absorption.

The change was remarkable.

When I saw her approximately four weeks later, she reported that colors were vivid again. Her night vision had returned. She no longer needed her husband to guide her through the house, and the flashes of light she had been experiencing were gone.

Vitamin A plays an essential role in normal vision, particularly in the function of the retina and our ability to see in low-light conditions. In her case, identifying and addressing a profound deficiency made an extraordinary difference.

I often think about that professor in South Africa who taught me to break disease down into its anatomical, physiological, biochemical, and genetic components. At the time, I could not have imagined that decades later, on the other side of the world, those lessons would help guide me in caring for a patient who was losing her sight.

It is a powerful reminder that what may seem like purely academic knowledge today can one day make a profound difference in someone's life.

Once she was losing her sight. Now, she can see again.

– John Young, MD - 727-545-4600, YoungFoundationalHealth.com