Retinitis pigmentosa caused by CRB1 mutations

Mutations in the CRB1 gene can cause multiple conditions including Retinitis Pigmentosa (RP), Leber’s Congenital Amaurosis (LCA), Cone-Rod Dystrophy, and potentially other diseases. Proteins such as CRB1 and CRB2 are essential in the retina to maintain adhesion between photoreceptors and Müller glial cells. Loss of CRB function results in loss of photoreceptors and causes blindness.

Normal fundus

Retinitis pigmentosa

Photo courtesy of Christian Hamel.
Photo courtesy of Christian Hamel.