My daughter Gracyn Smith is 8 years old and was diagnosed with Retinitis Pigmentosa (RP) with a CRB1 gene mutation at the age of 5. Retinitis pigmentosa is an inherited, degenerative eye disease in which there is damage to the retina. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain. Mutations in the CRB1 gene gene are associated with a severe form of retinitis pigmentosa.
Retinitis pigmentosa causes severe vision impairment and blindness. The cells controlling night vision (rods) are most likely to be affected. However, in some cases, retinal cone cells are damaged the most. The main sign of the disease is the presence of dark deposits in the retina.
The main risk factor is a family history of retinitis pigmentosa. It is a rare condition affecting about 1 in 4,000 people in the United States.
Work has begun on the CRB1 gene, but financial support is needed to further this research and push it to clinical trials to help children like Gracyn.
For more information, visit the Foundation Fighting Blindness.