Leber congenital amaurosis (LCA) is a rare, inherited retinal disease that leads to severe visual impairment at birth or in the first months of life. It is one of the most common causes of congenital blindness in childhood and affects an estimated 1 in 30,000 to 80,000 newborns.
LCA is caused by changes in one of over 25 known genes that are crucial for the function of the retina. The disease is inherited in an autosomal recessive manner: this means that both parents must be carriers of the gene change without being affected themselves. For siblings of an affected child, there is a recurrence risk of 25%.
Parents often notice as early as the first weeks of life that their child barely reacts to visual stimuli. Typical signs are:
Vision can range from limited light perception to complete blindness. Most affected children are otherwise healthy, but in some cases additional neurological or systemic abnormalities can occur.
The diagnosis is made by a comprehensive eye examination. Since the fundus may initially appear unremarkable in infants, an electroretinogram (ERG) is particularly informative: this measures the electrical activity of the retina and shows greatly reduced or absent signals in LCA. A genetic test confirms the diagnosis and identifies the underlying gene mutation, an important step for counseling the family and planning a possible therapy.
For most forms of LCA, there is currently no causal treatment. One significant exception is the mutation in the RPE65 gene: since 2017, an approved gene therapy (voretigene neparvovec) has been available for this, which specifically replaces the defective gene and can significantly improve vision in some of those affected.
Regardless of the genetic cause, care includes:
Even though vision usually remains stable, regular eye check-ups are important in order to detect accompanying conditions such as cataract or keratoconus early. In addition, gene therapy approaches are developing rapidly, so that new treatment options can be discussed at future check-ups.