When Vision Fades: A Personal Journey Through LHON, Immune Dysfunction, and Genetic Insight

By SWA

Leber’s Hereditary Optic Neuropathy (LHON): A Silent Thief of Sight

Leber’s Hereditary Optic Neuropathy, or LHON, is a rare genetic condition that causes sudden, painless loss of vision—typically in young adult males. It often starts in one eye and progresses to the other within weeks or months. Central vision becomes blurred or develops a dark spot, though peripheral vision usually remains. Color perception is commonly affected, and while the condition is generally painless, its impact is life-altering.

LHON is caused by mutations in mitochondrial DNA (mtDNA)—specifically in genes like MT-ND1, MT-ND4 (most common), and MT-ND6. Since mitochondria are responsible for cellular energy production, and the optic nerve requires high energy to function, any dysfunction can lead to optic nerve cell death.

What makes LHON particularly unique is its maternal inheritance. Mitochondria—and any mutations within them—are passed down from the mother. However, even with the mutation, not everyone develops symptoms due to incomplete penetrance. Men are more commonly affected than women.

There’s currently no cure, but treatments like idebenone, lifestyle adjustments (e.g., avoiding smoking and alcohol), and genetic counseling can help manage symptoms and provide support.

For more on the visual pathway and the importance of the optic chiasm (where optic nerves cross near the hypothalamus), see this anatomical overview.



My Story: From Trauma to Clarity

Vision issues weren’t new to me. After a serious car accident in 2011, followed by spinal surgery and a septic episode in 2016, I had occasional eye infections and visual disturbances. But everything worsened after I contracted COVID-19.

I lost nearly all color vision in my left eye—for three years. My sensory system felt like it was on fire. I experienced cerebrospinal fluid leaking from my nose and ear, and lab results showed highly elevated levels of IgG, IgA, and IgM, signaling a hyperactive immune response—possibly a cytokine storm triggered by viral invasion of the brain. It was terrifying. I feared everything from tumors to sarcoidosis, thyroid eye disease, or orbital pseudotumors.

Then something changed.

Five years later, my left eye started tearing again, and with that came a slow return of color perception. I began taking 10 mg of cetirizine nightly. Progress was gradual, but steady. Three years after that, I can now see the color red again in my right eye. Though I still struggle with light and sun sensitivity, I’m convinced that immune dysfunction—possibly triggered by COVID—was at the root of my persistent dry eyes, inflammation, and visual decline.

The Hidden Role of the Immune System in Vision

We often overlook how closely the immune system and the nervous system interact. In my case, immune overactivation likely impaired ocular and neural functions. The lacrimal glands, responsible for tear production, were compromised, leading to dry eyes. Only after immune regulation began to improve did I see signs of recovery.

Understanding Drug Metabolism: Why Genetics Matter

In addition to LHON, I discovered another piece of the puzzle: CYP3A5, a gene involved in drug metabolism. This gene produces an enzyme that helps the liver and intestines break down various medications, toxins, and hormones. Some people—called CYP3A5 non-expressors—don’t produce a functional version of this enzyme. This is due to specific gene variants like **CYP3A5 3/3.

Here’s why that matters:

  • If you're a non-expressor, your body processes certain drugs more slowly, which means:

    • Higher drug levels in your blood

    • Increased risk of side effects or toxicity

    • Lower doses are often needed

  • Common drugs affected by CYP3A5 activity include:

    • Tacrolimus (used after organ transplants)

    • Midazolam

    • Certain calcium channel blockers

    • Some HIV medications

Real-World Example:

If a CYP3A5 non-expressor takes tacrolimus, the drug lingers in the body longer. That individual will require a lower dose than someone who metabolizes it quickly (expressor with *1/*1 or *1/*3 genotype).

Understanding your CYP3A5 status could be life-saving when it comes to personalized medicine.

Final Thoughts

My journey has shown me how deeply interconnected our systems are—genetics, immunity, neurology, and even drug metabolism. What begins as a vision problem might point to broader immune dysfunction. What feels like random drug side effects might stem from a gene you didn’t know you had.

If there's one takeaway, it's this: listen to your body, stay informed, and never stop digging for answers. Even reading just one scientific article a week can make a difference in how you see yourself—and maybe even help you literally see again.

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9

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