What is Leber's congenital amaurosis and how to treat

Leber's congenital amaurosis, also known as ACL, Leber's syndrome or Leber's hereditary optic neuropathy, is a rare hereditary degenerative disease that causes gradual changes in retinal electrical activity, which is the eye tissue that detects light and color , causing severe vision loss since birth and other eye problems, such as sensitivity to light or keratoconus, for example.

Generally, the child with this disease does not show worsening of symptoms or decreased vision over time, but maintains a very limited level of vision, which, in many cases, allows only to detect nearby movements, shapes and changes in luminosity.

Leber's congenital amaurosis cannot be cured, but special glasses and other adaptation 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 trying to get pregnant.

How to treat and live with the disease

Leber's congenital Amaurosis does not worsen over the years and, therefore, the child can adapt to the degree of vision without many difficulties. However, in some cases, it may be advisable to use special glasses to try to slightly improve the degree of vision.

In cases where vision is very low, it can be useful to learn braille, to be able to read books, or to use a guide dog to move around on the street, for example.

In addition, the pediatrician can also recommend the use of computers adapted to people with very low vision, in order to facilitate the child's development and allow interaction with other children. This type of device is especially useful at school, so that the child can learn at the same pace as his peers.

Main symptoms and how to identify

Symptoms of Leber's congenital amaurosis are most common around the first year of age and include:

  • Difficulty grasping nearby objects;
  • Difficulty recognizing familiar faces when they are away;
  • Abnormal eye movements;
  • Hypersensitivity to light;
  • Epilepsy;
  • Delay in motor development.

This disease cannot be identified during pregnancy, nor does it cause changes in the structure of the eye. That way, the pediatrician or ophthalmologist can do several tests to eliminate other hypotheses that may be causing the symptoms.

Whenever there is a 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 start the appropriate treatment.

How to get the disease

This is an inherited 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 either of them has developed the disease.

Thus, it is common for families not to present cases of the disease for several generations, since there is only 25% of transmission of the disease.