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