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

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.

Keywords: Chronic kidney disease; LAMB2 mutations; Pierson syndrome; Spontaneous Hyhpema.

Fig. 1

Her full-field ERG showed moderate attenuation of the amplitude and mild prolongation of implicit times of the rod-dependent responses as well as moderate attenuation of amplitudes and mild prolongation of implicit times of the cone-dependent responses in both eyes

Fig. 2

Ultrasonography of the left eye showing vitreous haemorrhage and no retinal detachment

Fig. 3

OCT of her right eye shows retina thinning, macular hypoplasia and undisguisable photoreceptors layer

Fig. 4

OCT of her right optic nerve shows optic nerve atrophy with abnormal vasculature emitting from disc