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Diseases

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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Your Question

My 5-month-old son has Pierson syndrome. He has renal failure and pin-point pupils and now is treated by peritoneal dialysis. I would like to ask about the prognosis and the serious complications associated with this disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

What is the prognosis for individuals with Pierson syndrome?

Pierson syndrome carries a serious prognosis because of the eventual failure of the kidneys.[1] Most patients progress towards renal failure within the first days or months of life.[2] A kidney transplant could restore function, but in some cases it may be questionable whether the neurological impairment present justifies the procedure. Cataract and retinal detachment surgery may be indicated in select cases. Glaucoma typically needs to be treated. Lifelong monitoring is required, but some children may not live beyond the first decade of life.[1]
Last updated: 7/11/2011

References