RPE65-related dominant retinopathy

RPE65-related dominant retinopathy is a rare retinal condition caused by a change in one copy of the RPE65 gene that increases its function. This condition affects the retina, the light-sensitive layer at the back of the eye, which can lead to vision problems. The disease is also known by other names such as RP87, dominant RPE65 retinopathy, and retinitis pigmentosa 87 with choroidal involvement. The change in the RPE65 gene disrupts normal retinal function. Research into this condition is still developing, and information is continually updated as we learn more about how gene changes affect eye health. The nature of this gene variant means that the condition is inherited in a dominant manner, meaning that only one copy of the mutated gene is needed for the condition to occur.

Information about symptoms is currently limited for this condition.

This condition is caused by a heterozygous gain of function variant in the RPE65 gene. In people with this gene variant, one copy of the gene has an increased activity that leads to retinal dysfunction. Being a genetic condition, it arises from an inherited change in the gene, though further details about additional risk factors are not available.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition. Ongoing studies may provide new insights into the genetic mechanisms and potential therapies in the future.