A Review on Pierson Syndrome

S Kameshwaran; K P Sathish; S Shameem; K Shanmugapriya; A Saranya

Abstract

Pierson syndrome, also known as microcoria-congenital nephrosis syndrome, is a rare illness that mostly affects the kidney and eye. In 1963, Pierson et al. published the first description of this illness. A genetic mutation in the LAMB2 gene causes this disorder, which is responsible for producing the laminin-2 chain. The retina, neuromuscular junctions, glomerular and ocular basement membranes, and this laminin subunit are all significant components. Congenital nephrotic syndrome is characterized by specific ocular (eye) abnormalities, such as microcoria (tiny, insensitive pupils). Supportive care is used to manage the symptoms of nephrotic syndrome and renal failure in Pierson syndrome. In patients with severe CNS disease, bilateral nephrectomy may be performed; the majority of cases necessitate renal replacement therapy and transplantation.

Abstract

Keywords