microcoria-congenital nephrotic syndrome (Pierson syndrome)

Genetics

• associated with defects in LAMB2
• disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome

Clinical manifestations

• nephrotic syndrome
• neonatal onset
• diffuse mesangial sclerosis
• eye abnormalities with microcoria (major clinical feature)
• death usually occurs within the first weeks of life

More general terms

• congenital nephrotic syndrome