Conditions / Syndrome
Pierson syndrome
info · Syndrome
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies t
A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21.
Signs and symptoms
- Stage 5 chronic kidney disease
- Nephrotic syndrome
- Hyperechogenic kidneys
- Proteinuria
- Motor delay
- Cataract
- Microcephaly
- Remnants of the hyaloid vascular system
- Hypoproteinemia
- Diffuse mesangial sclerosis
Also known as: microcoria-congenital nephrosis syndrome