Leber's disease
La Leber hereditary optic neuropathy is a degenerative disease that damages the optic nerve constantly.
This disease affects more men between 18 and 35 years of age and is recognized by a sudden loss of central vision which occurs in both eyes and is caused by a genetic mutation of mitochondrial DNA, which is transmitted through the mother.
The age at which the symptoms of Leber's disease appear and the mutation that the patient carries are factors that directly affect the evolution of the condition.
Leber's disease
La Leber hereditary optic neuropathy is a degenerative disease that damages the optic nerve constantly.
This disease affects more men between 18 and 35 years of age and is recognized by a sudden loss of central vision which occurs in both eyes and is caused by a genetic mutation of mitochondrial DNA, which is transmitted through the mother.
The age at which the symptoms of Leber's disease appear and the mutation that the patient carries are factors that directly affect the evolution of the condition.
What is Leber hereditary optic neuropathy or LHON?
Leber's disease is a hereditary condition y neurodegenerative that damages the optic nerve and cause central vision loss or blindness. This condition is part of those known as rare diseases, and tends to manifest itself more in men than in women.
La loss of vision caused by Leber's hereditary optic neuropathy is sudden and bilateral, that is, it occurs in both eyes. The decrease in vision can occur at the same time or with an interval of weeks or months between one eye and the other.
The presence of Leber's disease can be identified when patients see a central scotoma and develops little by little until it stabilizes. Depending on the size of the scotoma, it produces a more acute degree of blindness.
Total vision loss is uncommon in patients with Leber's disease.
Genetics as a cause of Leber optic atrophy
Leber's hereditary optic neuropathy is a disease caused by genetic mutation of DNA mitochondrial and is inherited only by the mother.
A mother with the gene will transmit the disease to all their male and female children. However, only females will pass the disease to their offspring.
More than 90% of LHON mutations occur at positions 11778, 3460, or 14484, and all produce alterations in the MT-ND1, MT-ND4, and MT-ND6 genes of complex I of the mitochondrial respiratory chain.
But, not all individuals with mitochondrial DNA mutations develop the disease.
Main symptoms
Leber's disease begins without pain and the main symptom is loss of vision in both eyes.
95% of people with Leber hereditary optic neuropathy lose their sight before the age of 50.
The Leber's disease symptoms are:
- Blurred vision, clouding of central vision that prevents the appreciation of details in objects.
- Decreased central vision that prevents daily activities such as reading, recognizing faces or driving.
- Scotoma due to central vision deficit that may appear in the campor visual as a dark spot (positive scotoma) or as a visual gap in the central fixation point that makes the patient see absolutely nothing.
- Loss of visual acuity that prevents the performance of actions as simple as counting on the fingers.
- Bilateral optic atrophy which reduces the campor visual and causes cloudy vision.
- Difficulty appreciating details, and the colors are perceived faded.
- Profound and permanent blindness or, contradictorily, improvement in the central vision.
In some cases of Leber's disease, there may be neurological symptoms that are very similar to those of multiple sclerosis:
- Peripheral neuropathy.
- Postural tremor.
- Myopathy or disease that affects the functioning and muscle tone of the body.
- Movement disorders or ataxia, loss of coordination of movements.
- Muscle movements repetitive
- mental disorder known as encephalopathy It can cause poor coordination of movements of the legs and arms.
Treatment of Leber's disease
Today, there is no definitive cure for Leber's disease.
Many studies are being carried out with the main goal of finding an effective treatment for Leber's hereditary ocular neuropathy.
people with this disease should be seen by an ophthalmologist and a neurologist who treats neurological symptoms.
The use of glasses and contact lenses is prescribed to improve vision loss caused by Leber's disease. Also, it is recommended do not consume alcohol or tobacco, since these substances intervene in the mitochondrial oxidative process.
