Living with Pierson syndrome
A rare inherited condition that mainly affects the kidneys and eyes, with unusual small pupils.
Understanding Pierson syndrome
Babies have congenital nephrotic syndrome (kidneys that leak protein) and distinct eye differences, including microcoria (small pupils that don't respond to light). Chronic kidney problems, delays in development, and blindness can occur. Low muscle tone and movement disorders have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidneys that leak protein (congenital nephrotic syndrome)
- Small pupils (microcoria)
- Cataract
- Quick, involuntary eye movements (nystagmus)
- Low muscle tone (hypotonia)
- Delays in development
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in LAMB2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Association of Kidney Patients and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LAMB2 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcoria and congenital nephrosis syndrome; microcoria-congenital nephrosis syndrome; microcoria-congenital nephrotic syndrome
Patient organizations
- American Association of Kidney PatientsPierson syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pierson syndrome.
Explore research for Pierson syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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