NDLI: Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma

Content Provider	Springer Nature : BioMed Central
Author	ALKhamees, Abdullah ALShemmari, Mansoor
Abstract	Background Pierson syndrome is a rare autosomal recessive disorder that causes congenital nephrotic syndrome, neurodevelopmental abnormalities, and several ocular signs. The Pierson syndrome is caused by a mutation of the LAMB2 gene, that encodes laminin beta 2, which is expressed in the glomerular basement membrane, in neuromuscular junctions, and within ocular structures. First described by Pierson et al., the ocular signs of Pierson syndrome include microcoria, which is most characteristic sign, as well as iris abnormalities, cataract, glaucoma, and retinal detachment. Case presentation Herein, we report the case of a young female who, at 16 months, was diagnosed with congenital nephrotic syndrome, subsequently underwent a kidney transplant at age 4,did cataract surgery with IOL implantation in both eyes at age of 2 years and presented with ocular signs including high myopia, band keratopathy, t, nystagmus, retina, and optic nerve atrophy, she did not show nor did the family report any neurodevelopmental abnormalities. her genetic studies this missense variant c.970T< C p. (Cys324Arg) of LAMB2, later she developed spontaneous hyphema along with vitreous haemorrhage and increased intra ocular pressure in her left eye, she underwent cyclophotocouagulation to treat her high IOP. Conclusion LAMB 2 mutations can be associated with multiple ocular signs that varies from mild to severe form, we are her to report our case who did not present with the typical ocular sign of microcoria for PS, did not have any neurodevelopmental abnormality and presented with hyphaemia 2ndry to iris neovascularisation with vitreous haemorrhage with neovascular glaucoma.
Related Links	https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-023-02826-3.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
ISSN	14712415
DOI	10.1186/s12886-023-02826-3
Journal	BMC Ophthalmology
Issue Number	1
Volume Number	23
Language	English
Publisher	BioMed Central
Publisher Date	2023-02-24
Access Restriction	Open
Subject Keyword	Ophthalmology Pierson syndrome Chronic kidney disease LAMB2 mutations Spontaneous Hyhpema
Content Type	Text
Resource Type	Case study
Subject	Ophthalmology
Journal Impact Factor	1.7/2023
5-Year Journal Impact Factor	2/2023

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