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Pierson syndrome

A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Microcoria

A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.

Total: 11

(per page)

PMID (PMCID)
29051055	FEMALE
	Skeletal impairment in Pierson syndrome: Is there a role for lamininbeta2 in bone physiology?
	Beaufils C, Farlay D, Machuca-Gayet I, Fassier A, Zenker M, Freychet C, Bonnelye E, Bertholet-Thomas A, Ranchin B, Bacchetta J. Bone. 2018;106:187-193.
	This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome.
28188379 (5352804)	FEMALE	Child
	A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
	Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519.
	What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation.
28188379 (5352804)	FEMALE	Child
	A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
	Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519.
	What is known 8226 LAMB2 mutations are associated with Pierson syndrome 8226 Pierson syndrome is associated with congenital nephrotic syndrome, microcoria and neurological deficits What is new 8226 A novel mutation in the LAMB2 gene in two female siblings 8226 Genotype and clinical phenotype description of a novel LAMB2 mutation.
28188379 (5352804)	FEMALE	Child
	A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure.
	Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519.
	The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity.
27925579	FEMALE	Infant
	LAMB2 mutation with different phenotypes in China .
	Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y. Clin Nephrol. 2017;87 (2017)(1):33-38.
	Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM) #609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular involvements with microcoria as the most prominent clinical feature.
27004562 (4802576)	FEMALE	Infant
	Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
	Qiu L, Zhou J. BMC Pediatr. 2016;16:44.
	LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria.
24032283	FEMALE	Infant, Newborn
	A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.
	Aydin B, Ipek MS, Ozaltin F, Zenciroglu A, Dilli D, Beken S, Okumus N, Hosagasi N, Saygili-Karagol B, Kundak A, Renda R, Aydog O. Genet Couns. 2013;24(2):141-7.
	Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria.
23679161	FEMALE	Infant, Newborn
	First Japanese case of Pierson syndrome with mutations in LAMB2.
	Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Nakano M, Fujita N, Iijima K, Yoshikawa N. Pediatr Int. 2013;55(2):229-31.
	Pierson syndrome (OMIM 609049) is typically characterized by congenital nephritic syndrome and peculiar ocular anomalies with microcoria.
22228401	FEMALE
	Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
	Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pediatr Nephrol. 2012;27(5):865-8.
	Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.
17943323	MALE	Infant
	A milder variant of Pierson syndrome.
	Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. Pediatr Nephrol. 2008;23(2):323-7.
	Recently, mutations in the LAMB2 gene encoding laminin beta2 were described as the cause of Pierson syndrome, which is characterized by CNS and a complex ocular maldevelopment with microcoria as the most prominent clinical features.
18278520	FEMALE	Infant, Newborn
	Variable phenotype of Pierson syndrome.
	Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Pediatr Nephrol. 2008;23(6):995-1000.
	Pierson syndrome is caused by mutations in the LAMB2 gene, which encodes the laminin beta2 chain, and is clinically characterized by congenital nephrotic syndrome (CNS) and bilateral microcoria.