National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pierson syndrome


Other Names:
Microcoria - congenital nephrotic syndrome; Microcoria - congenital nephrosis
Categories:
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.[1] Hypotonia (poor muscle tone) and movement disorders have also been reported.[2] Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner.[1][2] The long-term outlook is poor; affected infants may not survive past the first weeks or months of life.[2][3]
Last updated: 3/23/2016
The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a renal transplant for end-stage kidney disease within the first decade 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.[4]
Last updated: 3/23/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Areflexia
Absent tendon reflexes
0001284
Autosomal recessive inheritance 0000007
Blindness 0000618
Diffuse mesangial sclerosis 0001967
Edema
Fluid retention
Water retention
[ more ] 		0000969
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hypoplasia of the ciliary body 0007774
Hypoplasia of the iris
Underdeveloped iris
0007676
Hypoproteinemia
Decreased protein levels in blood
0003075
Microcoria 0025492
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal onset 0003623
Nephrotic syndrome 0000100
Posterior lenticonus 0011502
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Psychomotor retardation 0025356
Stage 5 chronic kidney disease 0003774
Showing of 17 |
Last updated: 7/1/2020
Pierson syndrome is inherited in an autosomal recessive manner.[3] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 3/24/2016
Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.
Last updated: 3/24/2016

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Pierson syndrome carries a serious prognosis because of the eventual failure of the kidneys.[4] Most affected infants progress towards renal failure within the first days or months of life.[2] A kidney transplant may restore kidney function.[4]

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.[4]
Last updated: 3/23/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Nephrotic Syndrome Rare Disease Clinical Research Network (NEPTUNE) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with focal and segmental glomerulosclerosis, minimal change disease, membranous nephropathy, and nephrotic syndrome, other or unspecified caused, through research. The Nephrotic Syndrome Rare Disease Clinical Research Network (NEPTUNE) has a registry for patients who wish to be contacted about clinical research opportunities.

    For more information on the registry see: https://neptune-study.org/get-involved/

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pierson syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • In 2008 my daughter was pregnant and in the last trimester the fetus was diagnosed with Pierson syndrome. Labor was induced at 8 months and the baby died at birth. She got pregnant again and in the 5th month the fetus was diagnosed with the same problem. Can she do in vitro fertilization and select or work on the gene to have a normal boy? See answer

  • My 5-month-old son has Pierson syndrome. He has renal failure and pin-point pupils and now is treated by peritoneal dialysis. I would like to ask about the prognosis and the serious complications associated with this disease. See answer


  1. Aydin B, et. al. A novel mutation of laminin ß-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. Genet Couns. 2013; 24(2):141-147.
  2. P. Niaudet. Pierson syndrome. Orphanet. February 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2670. Accessed 7/11/2011.
  3. Jane Kelly. Pierson Syndrome. OMIM. August 12, 2011; http://www.omim.org/entry/609049.
  4. Pierson syndrome. The University of Arizona. 2015; http://disorders.eyes.arizona.edu/disorders/pierson-syndrome.