Known Gene Mutations
Retinitis pigmentosa (RP) is a genetic disease that causes vision loss and is caused by mutations in more than 80 genes. RP can be inherited in several ways, but the most common pattern is autosomal recessive. This means that both parents must pass on a copy of the gene for a child to develop RP. A person can also develop RP if they inherit one copy of the gene from one parent.
Some of the most common genes associated with RP include:
RHO | Most common gene associated with autosomal dominant RP, accounting for 20–30% of cases
USH2A | Most common gene associated with autosomal recessive RP and most common cause of type II Usher syndrome
RPGR | A common gene associated with X-linked RP
PDE6A and PDE6B | Cause 2–5% of autosomal recessive cases
MT-TS2 | A gene associated with non-syndromic RP
RDS and ROM1 | Genes associated with digenic RP; a rare type of RP that occurs when a person has mutations in both the ROM1 and RDS genes.
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Other genes that may cause RP include:
ABCA4, RP1, KCNV2, HMCN1, CYP4V2, COL11A1, CAPN5, CACNA1F, and ADAMTS18.
Estimated Relative Contributions of Genes to RP
Estimated relative contribution of genes to non-syndromic retinitis pigmentosa. Estimates are based on personal experience and a search of the literature. It is important to realize that the frequency may vary depending on the geographic region. Below graphic does not present all genes under investigation as contributors to RP, such as INPP5E.
