Other Names for this Disease
- Microcoria - congenital nephrotic syndrome
- Microcoria - congenital nephrosis
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.Pierson syndrome is a disease chiefly affecting the kidneys and eyes. It is characterized by the association of
Last updated: 7/11/2011
- 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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