Pierson syndrome

Pierson syndrome

(pēr′sŏn)
An autosomal recessive form of nephrotic syndrome with diffuse mesangial sclerosis found in association with developmental abnormalities of the eyes, esp. microcoria.
References in periodicals archive ?
[9] indicated that analysis of the LAMB2 gene, which is mutated in Pierson syndrome (OMIM #609049), could be included in the diagnostics of early onset nephrotic syndrome with absence of extrarenal abnormalities.
No human diseases have been associated with mutations in LAMA1, LAMA5, and LAMC1 (encodes laminin [gamma]1) to date, although lama1, lama5, lamb1, and lamc1 null mice are embryonic lethal [24, 45, 46], while a hypomorphic allele of lamal results in retinal defects in mice [47], point mutations in LAMB1 result in lissencephaly-5 in humans [ 48], and mutations of LAMB2 result in Pierson syndrome [49], which causes severe nephrosis and ocular abnormalities including lens malformations and cataracts demonstrating the critical role that these laminins play in development.
Barrow et al., "Ophthalmological aspects of Pierson syndrome," American Journal of Ophthalmology, vol.