Kristin Smedley is the President of Curing Retinal Blindness Foundation, a non-profit organization focused on finding treatments and cures for CRB1 retinal disease.
Mutation in the CRB1 gene can lead to two rare conditions – retinitis pigmentosa and Leber congenital amaurosis.
Retinitis pigmentosa is the result of the photoreceptor cells of the eye – rods and cones – deteriorating. It is a slow degenerative disease in which rods usually decline first and as such, one of the earlier symptoms is difficulty seeing in dim light or transitioning from light to dark and dark to light. The disease is progressive and will eventually lead to total blindness when the person reaches their teens or early adulthood.
Leber congenital amaurosis is a more aggressively progressive disease that often appears at birth or soon after birth. Symptoms and severity can vary greatly among patients, but the gene mutations will cause loss of the photoreceptor cells and will lead to blindness.
In this video clip, Smedley discusses many of the studies underway in genetic retinal diseases, including the use of gene therapy, CRISPR, and artificial intelligence to possible treat these conditions.
For more information, visit http://crb1.org/