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Which are the symptoms of Leber Hereditary Optic Neuropathy?
See the worst symptoms of affected by Leber Hereditary Optic Neuropathy here
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The Leber hereditary optic neuropathy, in general, starts suddenly, without pain, in the two eyes. It affects more males between 20 and 30 years of life and 95% of people lose their sight before the age of 50.[3] After some weeks or months, the symptoms that are appearing include:[3][4]
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
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
