Specialties:

Neuro-ophthalmology, Oculoplastic and Orbital Surgery, Cataract Surgery, General Ophthalmology, Retinal Degeneration, Diabetic Retinopathy

 Xiao-Ming, a university student, recently noticed that his computer screen seemed much brighter and more uncomfortable to look at than before. At first, he thought it was simply eye fatigue, but the discomfort did not improve. He decided to visit a nearby eye clinic for an eye check-up, where his condition was initially suspected to be degeneration of the retina in his right eye.

Two weeks later, during a follow-up visit, his vision had become even more blurred in both eyes, even with corrective glasses. This raised concerns for the clinic physician, who realized that the problem might be more serious than expected and recommended a referral to a larger hospital for further evaluation. Xiao-Ming was eventually referred to the Department of Ophthalmology at Far Eastern Memorial Hospital.

After undergoing a series of detailed eye and brain examinations, Dr. Tzu-Lun Huang suspected bilateral optic neuropathy based on Xiao-Ming’s clinical presentation and advised genetic testing. One month later, the genetic test results confirmed the diagnosis of Leber Hereditary Optic Neuropathy (LHON).

The diagnosis was emotionally challenging for Xiao-Ming and his family at first. However, Far Eastern Memorial Hospital offers treatment options for LHON, allowing him to receive timely and appropriate therapy. After one year of oral medication and regular follow-up, Xiao-Ming’s vision gradually improved, and his mood became brighter as well.

Leber Hereditary Optic Neuropathy – Perhaps Not as Rare as You Think

Leber Hereditary Optic Neuropathy (LHON) is a rare inherited eye disease passed down from the mother. It is caused by genetic changes that affect the mitochondria, the parts of our cells that produce energy. LHON mainly affects males from their teenage years to around 30 years of age.

Over time, the nerve cells responsible for vision do not receive enough energy. Like a battery running out of power, these cells gradually stop functioning properly, leading to worsening vision. As the disease progresses, damage to the optic nerve may result in ongoing vision loss in both eyes, which can significantly affect daily life and school activities.

Worldwide, LHON affects about 1 in 50,000 people and occurs much more often in males than females, at a ratio of about 3 to 1. According to Taiwan’s rare disease registry, more than ten cases of LHON had been confirmed in Taiwan as of October 2025, making it an inherited optic nerve disease that should not be overlooked.

Leber Hereditary Optic Neuropathy – Common Symptoms and Conditions It Is Often Confused With

LHON, optic neuritis, and glaucoma all affect the optic nerve and can cause similar visual symptoms. However, because their underlying causes and disease progression are different, there are important clinical features that help doctors tell them apart, including:

Leber Hereditary Optic Neuropathy – Current Treatments and Care

Excessive reactive oxygen species (ROS) in the body can further damage the optic nerve cells. Therefore, people with LHON need to pay special attention to their lifestyle, including avoiding smoking and alcohol and staying away from medications or toxins that may harm the optic nerve or mitochondria. These measures are important for managing the disease.

Like many other mitochondrial-related conditions, treatment options for LHON are currently limited. Idebenone, a drug similar to coenzyme Q10, can help cells produce energy even when mitochondrial function is impaired. It also has antioxidant effects that help reduce further cell damage. Some patients may experience improved vision, or at least slower progression of vision loss after treatment.

Currently, Idebenone is the only drug approved by the European Medicines Agency (EMA) for treating LHON, marketed under the name RaxoneR, and it is also available for prescription in Taiwan according to medical evaluation.

For suspected cases, it is recommended to seek medical attention early. Through referrals from local clinics, patients can undergo genetic testing and subsequent treatment at Far Eastern Memorial Hospital. The medication is now covered under Taiwan’s National Health Insurance, helping reduce the risk of blindness and protecting the “windows to the soul”—the eyes.