Pierson Syndrome (PIERS)
Pierson Syndrome (PIERS)
OMIM number: 609049
Comments closing date: 30/06/2025
Pierson syndrome is rare genetic condition caused
by two individuals carrying the same recessive
gene. It mainly affects the kidneys and the eyes.
Individuals with Pierson Syndrome have distinctive
features to their eyes. These include pupils that do
not react to light. They can also develop kidney
disease where they leak excessive protein out of
their urine, which can cause generalised swelling.
This leads to chronic kidney disease. There can
be issues with brain and nervous system
development and blindness. Low muscle tone and
difficulties in controlling movements have also
been found. Pierson syndrome is caused by
changes in the LAMB2 gene.
Review date: 28 May 2027
