Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness.Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.

Ocular (eye) abnormalities are another common feature of Pierson syndrome. Most affected infants are born with abnormally small pupils (microcoria). Other ocular abnormalities may include cataracts, glaucoma, retinal detachments, and blindness.

Those that survive past infancy typically have neurological disabilities and developmental delays. Many children with Pierson syndrome don't achieve normal milestones such as sitting, standing, and talking.

According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.

Glaucoma, cataracts and retinal detachments require their usual treatment. Lifelong monitoring is required, but affected children may not live beyond the first decade of life.