Other Names for this Disease
- Microcoria - congenital nephrotic syndrome
- Microcoria - congenital nephrosis
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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.Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include
Last updated: 3/23/2016
- 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.
- 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.
- Jane Kelly. Pierson Syndrome. OMIM. August 12, 2011; http://www.omim.org/entry/609049.
On this page
- 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.