Pierson syndrome

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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