Retinitis pigmentosa 25 is a retinal dystrophy that causes progressive vision loss.
The severity and onset of symptoms varies from person to person. Retinitis pigmentosa 25 is not expected to impact a person’s intellect or life span.
This condition is caused by pathogenic (disease-causing) variants in the EYS gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals with Sephardic Jewish descent have a 1 in 42 chance to be a carrier. Carriers typically do not experience any symptoms.
Resources:
Genetic and Rare Diseases Information Center (GARD)
Revised June 2022
