Very rare. Autosomal recessive transmission of a mutation in the LAMB2 gene (3 p 21) coding for laminin beta 2: this protein is expressed in the glomerular basement membrane, at the level of the neuromuscular junction, and of the intraocular muscles, the lens and the retina.

Association of a genetic congenital nephrotic syndrome with ocular anomalies, mainly a microcoria  i.e. pupils that are very narrow and non-reactive to light. Microcoria is due to the absence of the pupillary dilator muscles as well as abnormalities of the lens and  retina. There is also muscular hypotonia and psychomotor retardation.

The nephrotic syndrome (histology: diffuse mesangial sclerosis) is evolving very quickly to chronic renal failure.

Anesthetic implications:

check the electrolyte, serum creatinine, total blood count; difficult venous access (edema); hypoproteinemia; muscular hypotonia

References :  

• VanDeVoorde R, Witte D, Kogan J, Goebel J. 
  Pierson syndrome: a novel cause of congenital nephrotic syndrome. 
  Pediatrics 2006; 118: e501-5.

Updated: October 2018