Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Pierson syndrome


Other Names for this Disease

  • Microcoria - congenital nephrosis
  • Microcoria - congenital nephrotic syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Pierson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of movement 90%
Cataract 90%
EEG abnormality 90%
Hematuria 90%
Hemiplegia/hemiparesis 90%
Hypertension 90%
Muscular hypotonia 90%
Nephrotic syndrome 90%
Nystagmus 90%
Proteinuria 90%
Hypoplasia of penis 50%
Areflexia -
Autosomal recessive inheritance -
Blindness -
Diffuse mesangial sclerosis -
Edema -
Hypoplasia of the ciliary body -
Hypoplasia of the iris -
Hypoproteinemia -
Neonatal onset -
Posterior lenticonus -
Stage 5 chronic kidney disease -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Hereditary Ocular Disease - Pierson syndrome. The University of Arizona. 2010; http://disorders.eyes.arizona.edu/handouts/pierson-syndrome. Accessed 7/11/2011.


Other Names for this Disease
  • Microcoria - congenital nephrosis
  • Microcoria - congenital nephrotic syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.