Pierson syndrome

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

High myopia

A severe form of myopia with greater than -6.00 diopters.


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(per page)
PMID (PMCID)
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.