Leber’s Hereditary Optic Neuropathy

WHAT IS IT?
LHON or Leber’s Hereditary Optic Neuropathy is a hereditary visual loss in one eye. Rare
examples of this syndrome may manifest in early childhood or later in life, even though it often
occurs in a person's teens or twenties. Males are afflicted substantially more frequently than
females for unidentified causes. LHON is a mitochondrial disease i.e. a chronic disease, often
inherited through the mother, which occurs when the mitochondria fails to produce enough
energy for the body to function properly. LHON is also usually referred to as Leber’s optic
atrophy or Leber’s optic neuropathy. It bears the name of the disease's researcher, Dr.
Theodore Leber. LHON is genetic; parents pass it on to their offspring.

SYMPTOMS
The initial signs of LHON are typically blurred or cloudy vision. If vision loss starts in one eye, it
typically affects the other eye within a few weeks or months. These visual issues might occur in
one eye or both eyes at once. Visual acuity (the ability to distinguish colors) and crispness
gradually decline in both eyes. LHON normally solely manifests as vision loss, although some
families have been identified with additional indications and symptoms. The condition in these
people is referred to as "LHON plus." LHON + can cause movement difficulties, tremors, and
irregularities in the electrical signals that regulate the heartbeat(cardiac conduction defects) in
addition to eyesight loss. Some affected people exhibit characteristics like multiple sclerosis, a
chronic condition marked by numbness, poor coordination, and muscle weakness among other
health issues.

CAUSES
LHON is caused by mutation in mitochondrial DNA and certain genes such as MT-NDI1,
MT-ND4, MT-ND4L and MT-ND6. Loss of vision is caused by the death of cells in your optic
(eye) nerve. As these cells die, the optic nerve can no longer adequately transmit visual
information from your eyes to your brain. Alcohol consumption and smoking have been linked in
some research. Even though there are no known cases in your family, you could still develop
LHON.

FREQUENCY
One in 50,000 people have hereditary optic neuropathy. 85% of females and 50% of males with
the LHON mutation never lose their vision. Leber hereditary optic neuropathy typically has
lifelong effects. Almost 95% of those with LHON may become blind by age 50.

MANAGING, TREATMENT AND PREVENTION

As of now there is no cure for Leber hereditary optic neuropathy. Some individuals may,
however, partially (not completely) regain their vision. It is occasionally advised to take vitamin
C, vitamin E, and vitamin B12. Idebenone, a synthetic version of coenzyme Q10, has been
demonstrated to be beneficial in roughly half of the instances during a clinical trial for
pharmaceuticals. The Food and Drug Administration (FDA)-approved medication EPI-743 is an
additional therapy option that exhibits promise. This medication is comparable to Idebenone but
has a small difference that could speed up vision recovery. In addition to gene therapy, experts
are looking into hormone therapy and mitochondrial replenishment.
Given that it is a genetic illness, it cannot be prevented. Prenatal testing can be done to identify
hereditary optic neuropathy risk in the family. You will talk about the possible hazards to your
children during genetic counseling, which your healthcare professional might offer.

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REFERENCE LINKS:
https://medlineplus.gov/genetics/condition/leber-hereditary-optic-neuropathy/#frequency
https://my.clevelandclinic.org/health/diseases/15620-leber-hereditary-optic-neuropathy-sudden-v
ision-loss
https://my.clevelandclinic.org/health/diseases/15612-mitochondrial-diseases