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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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What are the signs and symptoms of Pierson syndrome?

The primary and most consistent systemic problem in individuals with Pierson syndrome is progressive renal disease. Congenital nephrotic syndrome with proteinuria (protein in the urine), hypoalbuminemia (too little albumin in the blood) and hypertension is characteristic. Renal failure eventually occurs, although the rate of progression varies amongst individuals. Most individuals require a renal transplant for end-stage kidney disease in the first decade of life. Hypotonia and muscle weakness are sometimes present, and congenital myasthenia has been reported. Severe global psychomotor delay (delayed development of mental and motor skills) is common and many infants never achieve normal milestones.[1]

There is a lot of variability in the eye characteristics within and between affected families. Microcoria (abnormally small pupils) is the most consistent ocular (eye) feature but is not present in some individuals. It is congenital (present at birth) and sometimes seen with iris hypoplasia (incomplete development of the colored part of the eye). Glaucoma and lens opacities are present in about one-fourth of affected individuals. Corneal size varies, with some individuals having apparent macrocornea (abnormally large cornea). Retinal thinning is often present as well. Retinal detachments occur in 24% of affected individuals and optic atrophy is seen in some patients.[1]
Last updated: 7/11/2011

  1. Hereditary Ocular Disease - Pierson syndrome. The University of Arizona. 2010; Accessed 7/11/2011.