Rare group of degenerative diseases of the retina, and it is the most common cause of congenital blindness in children.
LCA2 a genetic form of this disease caused by a mutation in the retinal pigment epithelium 65-kD protein gene (RPE65).
The RPE65 protein is required to keep light sensing photoreceptors , the rods and cones, working appropriately.
RPE65 expressed in retinal pigment epithelium and encodes a 65-kd protein a component of the visual cycle.
Visual cycle refers to the biochemical pathway that regenerates visual pigment following exposure to light.
LCA2 effects only about one in 2000 people and the United States and presently no effective therapy exists.
Group of recessive inherited diseases manifested by severe rod-cone dystrophies of infant onset.
Impaired vision from birth involving mutation of several genes including RPE65.
Usually progresses to blindness in the third decade of life.
No effective treatment.