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Genetic and Rare Diseases Information Center (GARD)

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Pierson syndrome


Other Names for this Disease
  • Microcoria - congenital nephrosis
  • Microcoria - congenital nephrotic syndrome
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Overview


Pierson syndrome is a disease chiefly affecting the kidneys and eyes. It is characterized by the association of congenital nephrotic syndrome and ocular (eye) abnormalities with microcoria (small pupils that are not responsive to light). Nephrotic syndrome causes proteinuria (protein in the urine). Ocular anomalies are present from birth and may include microcoria associated with absence of the pupillary dilator muscle in the iris and abnormal eye development with lens-shape, retinal and corneal anomalies. Hypotonia (poor muscle tone), movement disorders and psychomotor delay have also been reported. Pierson syndrome is caused by mutations in the LAMB2 gene and is inherited in an autosomal recessive manner.[1]
Last updated: 7/11/2011

References

  1. 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.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.