Leber’s congenital amaerosis, also known as ACL, Leber syndrome, or hereditary leber optic neuropathy, is a rare hereditary degenerative disease that causes progressive changes in the electrical activity of the retina, which is eye tissue that detects light and color, resulting in severe vision loss from birth. and other eye problems, such as sensitivity to light or keratocone Like what.
In general, the child with this disease has no symptoms of worsening or decreased vision over time, but maintains a very limited level of vision, which in many cases only allows for close movements, shapes, and changes in brightness.
- Leber’s congenital amaaurosa has no cure.
- But special glasses and other coping strategies can be used to try to improve a child’s vision and quality of life.
- Often times.
- People with this disease in the family need genetic counseling before trying to get pregnant.
Leber’s congenital amaerosis does not worsen over time and, as a result, the child is able to adapt to the degree of vision without much difficulty, however, in some cases, it may be advisable to wear special glasses to try to slightly improve the degree. vision.
In cases where vision is very low, it can be helpful to learn braille, be able to read books, or use a guide dog to get around the street, for example.
In addition, the pediatrician may also recommend the use of computers suitable for people with very low vision, in order to facilitate the development of the child and allow interaction with other children. This type of device is especially useful at school, so the child can learn at the same pace as his peers.
Symptoms of Leber’s congenital amaaurosa are more common during the first year and include:
This disease cannot be identified during pregnancy and does not cause any change in the structure of the eye, so 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 your pediatrician for vision tests, such as electroretinography, to diagnose the problem and begin appropriate treatment.
It is an inherited disease and is therefore passed down through families, however, for this to happen, both parents must have a disease gene and it is not mandatory for either parent to have developed the disease.
Thus, it is common for families not to present cases of the disease for several generations, as there is only 25% transmission of the disease.