Ophthalmological aspects of Pierson syndrome
- PMID: 18672223
- DOI: 10.1016/j.ajo.2008.05.039
Ophthalmological aspects of Pierson syndrome
Abstract
Purpose: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition.
Design: Retrospective, observational case series.
Methods: A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature.
Results: The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability.
Conclusions: Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.
Similar articles
-
A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.Genet Couns. 2013;24(2):141-7. Genet Couns. 2013. PMID: 24032283
-
First Japanese case of Pierson syndrome with mutations in LAMB2.Pediatr Int. 2013 Apr;55(2):229-31. doi: 10.1111/j.1442-200X.2012.03629.x. Pediatr Int. 2013. PMID: 23679161
-
[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia].Przegl Lek. 2006;63 Suppl 3:37-9. Przegl Lek. 2006. PMID: 16898484 Polish.
-
Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.Matrix Biol. 2018 Oct;71-72:250-261. doi: 10.1016/j.matbio.2018.04.008. Epub 2018 Apr 16. Matrix Biol. 2018. PMID: 29673759 Free PMC article. Review.
-
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.Am J Med Genet A. 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. Am J Med Genet A. 2004. PMID: 15372515 Review.
Cited by
-
Cystic kidneys in a neonate: do not forget to examine pupils.BMJ Case Rep. 2020 Jul 2;13(7):e236517. doi: 10.1136/bcr-2020-236517. BMJ Case Rep. 2020. PMID: 32616536 Free PMC article. No abstract available.
-
Acute ocriplasmin retinopathy.Retina. 2015 Jun;35(6):1055-8. doi: 10.1097/IAE.0000000000000667. Retina. 2015. PMID: 25996428 Free PMC article. No abstract available.
-
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome.Front Med (Lausanne). 2019 Feb 4;6:12. doi: 10.3389/fmed.2019.00012. eCollection 2019. Front Med (Lausanne). 2019. PMID: 30778388 Free PMC article.
-
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204080 Free PMC article.
-
Rhegmatogenous retinal detachment following intravitreal ocriplasmin.Graefes Arch Clin Exp Ophthalmol. 2016 Dec;254(12):2333-2338. doi: 10.1007/s00417-016-3398-7. Epub 2016 Jun 8. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27278373 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
