Which are the symptoms of Leber Hereditary Optic Neuropathy?
See the worst symptoms of affected by Leber Hereditary Optic Neuropathy here
Symptoms of Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disorder that primarily affects the optic nerve, leading to vision loss. It is typically inherited maternally, meaning it is passed down from the mother to her children. LHON predominantly affects young adult males, although females can also be affected. The symptoms of LHON usually develop in the late teens or early twenties, but they can occur at any age.
Vision Loss
The hallmark symptom of LHON is a sudden and painless loss of central vision in one eye, followed by the other eye within weeks or months. This vision loss is typically severe and leads to significant visual impairment. The affected individuals often describe their vision as blurry or foggy, with a central blind spot. Peripheral vision is usually preserved, but the ability to see fine details, such as reading or recognizing faces, is greatly impaired.
Color Vision Defects
Another common symptom of LHON is a color vision defect. Affected individuals may have difficulty distinguishing between certain colors, particularly red and green. This color vision impairment can vary in severity and may affect one or both eyes.
Optic Nerve Damage
LHON is characterized by the degeneration of the optic nerve, which is responsible for transmitting visual information from the eye to the brain. The damage to the optic nerve is typically bilateral, affecting both eyes. The optic nerve becomes thinner and loses its normal structure, leading to the vision loss experienced by individuals with LHON.
Other Symptoms
In some cases, individuals with LHON may experience additional symptoms, although these are less common. These may include eye pain, eye movement abnormalities, or a temporary improvement in vision when viewing objects in motion (known as the "Rancho sign"). However, these additional symptoms are not present in all cases of LHON.
Progression and Prognosis
The progression of LHON can vary among individuals. While the initial vision loss is usually rapid, the subsequent progression of the disease may stabilize, resulting in a permanent level of visual impairment. However, in some cases, there may be further deterioration of vision over time. The prognosis for LHON is generally poor, with most individuals experiencing significant visual impairment or legal blindness.
Treatment and Management
Currently, there is no cure for LHON. However, certain treatment options may help manage the symptoms and potentially slow down the progression of the disease. These may include the use of idebenone, a medication that acts as an antioxidant and may improve mitochondrial function. Genetic counseling and support groups can also be beneficial for individuals and families affected by LHON.
In conclusion, Leber Hereditary Optic Neuropathy (LHON) is a genetic disorder that primarily affects the optic nerve, leading to severe vision loss. The main symptoms include sudden central vision loss, color vision defects, and optic nerve damage. While there is no cure for LHON, treatment options and support can help manage the symptoms and provide emotional support for affected individuals and their families.
Worsening of vision, blurred vision, or clouding of central vision that impairs vision of detail in the two eyes.
Decreased central vision needed to read, recognize faces, or drive.
Scotoma central, which refers to a deficit of a part of the visual field and may manifest as a dark spot in the visual field (in this case it is called a scotoma positive), or treated in a lagoon in the visual field (in this area the patient does not see anything) that appears at the point of fixation central.
Low visual acuity (in 80% of people) that gets worse in such a way that you can not even count the fingers.
Atrophy bilateral optic which causes vision to dim and reduces the field of vision. The ability to see fine detail is also lost. The colors seem faded.
With time, the pupil will be less able to react to the light.
Legal blindness in the majority of cases, that is deep and permanent, except in a few cases in which there is an improvement of central vision.
In some more rare cases there can be neurological symptoms associated:[3][4]
Postural tremor.
Peripheral neuropathy.
Myopathy, diseases that cause problems with the tone and contraction of muscles that control voluntary movements.
Movement disorders.
Symptoms similar to multiple sclerosis progressive.
Ataxia, which is loss of coordination of movements.
Twisting and repetitive movements of the muscles.
Encephalopathy, in which there is an altered mental state that is sometimes accompanied by poor coordination of movements of legs or arms.
Cardiac conduction defects.
It is important to know that some people despite having a mutation that causes Leber hereditary optic neuropathy do not develop any feature of this disease. In particular, more than 50% of males with a mutation and more than 85% of women with a mutation will never have vision loss or related medical problems. For this reason, it is believed that there are other factors that can determine whether a person will develop the signs and symptoms.[3]
Last update: 3/13/2017
Source: https://rarediseases.info.nih.gov/espanol/13049/neuropatia-optica-hereditaria-de-leber#diseaseSíntomasSection
Posted May 20, 2017 by Enrique Guzmán 1370
