Kristin Smedley, president of Curing Retinal Blindness Foundation, talks about what doctors need to know about conditions such as retinitis pigmentosa and Leber congenital amaurosis.
Curing Retinal Blindness Foundation is 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 – Leber congenital amaurosis and retinitis pigmentosa.
Leber congenital amaurosis is a progressive degenerative disease that often appears at birth or soon after birth. Symptoms and severity vary greatly, but the gene mutations will cause loss of the photoreceptor cells and will lead to blindness. As Smedley explain in this video clip, awareness campaigns by her foundation and others have greatly improved how much clinicians know about this rare condition.
Retinitis pigmentosa is a slower progressing disease. Usually, the rods 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 total blindness will often develop when the person reaches their teens or early adulthood.
For more information, visit http://crb1.org/
