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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：Pierson综合征是一种罕见的常染色体隐性遗传疾病，可导致先天性肾病综合征，神经发育异常,和几个眼部体征。Pierson综合征是由LAMB2基因突变引起的,编码层粘连蛋白β2，在肾小球基底膜中表达，在神经肌肉接头中，在眼结构内。首先由Pierson等人描述。,皮尔森综合征的眼部体征包括微角膜，这是最典型的标志，以及虹膜异常，白内障,青光眼,和视网膜脱离.
方法：这里，我们报道了一个年轻女性的案例，16个月时,被诊断为先天性肾病综合征,随后在4岁时接受了肾脏移植，在2岁时进行了白内障手术并在双眼中植入了IOL，并表现出包括高度近视在内的眼部体征，带状角膜病变,t,眼球震颤,视网膜,视神经萎缩,她没有显示，也没有家人报告任何神经发育异常。她的遗传学研究了LAMB2的这种错义变异c.970T为了治疗高眼压,她接受了睫状体光电凝治疗.
结论：LAMB2突变可能与从轻度到重度的多种眼部体征相关，我们是她来报告我们的病例，她没有出现典型的PS微角膜征象，没有任何神经发育异常，并出现2至虹膜新生血管充血伴玻璃体出血伴新生血管性青光眼。
方法：这里，
结论：LAMB2突变可能与从轻度到重度的多种眼部体征相关，
