Leber's congenital amaurosis, also known as ACL, Leber's syndrome or Leber's hereditary optic neuropathy, is a rare inherited degenerative disease that causes gradual changes in the electrical activity of the retina, which is the tissue of the eye that detects light and color, leading to severe loss of vision from birth and other eye problems such as light sensitivity or keratoconus, for example.
Generally, the child with this disease does not present worsening of symptoms or decreased vision over time, but maintains a very limited level of vision, which, in many cases, can only detect nearby movements, lumens and changes in luminosity.
Leber's congenital amaurosis has no cure, but special glasses and other adaptive strategies can be used to try to improve the child's vision and quality of life. Often, people with cases of this disease in the family, need to do genetic counseling before attempting to conceive.
How to treat and live with the disease
Leber's congenital amaurosis does not worsen over the years, so the child can adapt to the degree of vision without too much difficulty. However, in some cases, the use of special glasses may be advised to try to slightly improve the degree of vision.
Even in cases where vision is very small, it may be useful to learn braille, to be able to read books, or to use a guide dog to move about in the street, for example.
In addition, the pediatrician can also recommend the use of computers adapted to people with very reduced vision, in order to facilitate the development of the child and allow interaction with other children. This type of device is especially useful in school so that the child can learn at the same pace as his / her classmates.
Main symptoms and how to identify
Symptoms of Leber's congenital amaurosis are most common around the age of 1 and include:
- Difficulty in grasping nearby objects;
- Difficulty recognizing familiar faces when away;
- Abnormal movements of the eyes;
- Hypersensitivity to light;
- Epilepsy;
- Delay in motor development.
This disease can not be identified during pregnancy nor causes changes in the structure of the eye. In this way, the pediatrician or ophthalmologist can do several tests to eliminate other hypotheses that may be causing the symptoms.
Whenever there is suspicion of vision problems in the baby it is recommended to consult the pediatrician to do vision tests, such as electroretinography, to diagnose the problem and initiate appropriate treatment.
How to get sick
This is a hereditary disease and is therefore transmitted from parents to children. However, for this to happen, both parents need to have a disease gene, and it is not mandatory that any of them have developed the disease.
Thus, it is common for families to not present cases of the disease for several generations, since there is only 25% transmission of the disease.
