What proteins are affected by retinitis pigmentosa?

What proteins are affected by retinitis pigmentosa?

RP2 is a ubiquitously expressed protein encoded by a gene associated with X-linked retinitis pigmentosa (XLRP), a retinal degenerative disease that causes severe vision loss.

What genes does retinitis pigmentosa affect?

Mutations in the RHO gene are the most common cause of autosomal dominant retinitis pigmentosa, accounting for 20 to 30 percent of all cases. At least 35 genes have been associated with the autosomal recessive form of the disorder.

Is there gene therapy for retinitis pigmentosa?

Delivering Txnip to mice with retinitis pigmentosa was an effective treatment, making this approach a potential gene therapy for the disease. A new gene therapy has been shown to protect eye cells in mice with a rare disorder that causes vision loss, especially when used in combination with other gene therapies.

Is there a genetic test for retinitis pigmentosa?

Most rare retinal diseases – including retinitis pigmentosa, Stargardt disease, Usher syndrome and choroideremia – are inherited and usually caused by one or more defects (mutations) in a single gene. Genetic testing is available to attempt to identify the defective gene causing the IRD in an individual or family.

Can a recessive gene cause retinitis pigmentosa?

In most cases, the disorder is linked to a recessive gene, a gene that must be inherited from both parents in order to cause the disease. But dominant genes and genes on the X chromosome also have been linked to retinitis pigmentosa.

How does retinitis pigmentosa ( RP ) affect the eye?

Summary Summary. Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness.

Are there any other diseases similar to retinitis pigmentosa?

Some of the genes associated with retinitis pigmentosa are also associated with other eye diseases, including a condition called cone-rod dystrophy. Cone-rod dystrophy has signs and symptoms similar to those of retinitis pigmentosa.

How many X chromosomes does it take to cause retinitis pigmentosa?

In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females, (who have two X chromosomes), mutations usually have to occur in both copes of the gene to cause the disorder.