Researchers have identified a gene that is associated with a rare form of blindness from birth. Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease that causes a loss of vision in infants and researchers have discovered the mutation of the NMNAT1 gene that is believed to be the cause of the disease. The discovery of this gene means the cause of LCA has been found and now researchers can move forward in creating vision-saving gene therapy for these patients. Leber congential amaurosis is one of the most common causes of blindness in children and affects about three of 100,000 newborns. Vision loss in these children is noticeable within the first few months of life and children with LCA are often times enrolled in schools for the blind.
Researchers discover gene associated with vision loss in infants
- by Dr. Paul Krawitz
- 02 August, 2012