Arima Mitsuru, Tsukamoto Shoko, Akiyama Rumi, Nishiyama Kei, Kohno Ri-Ichiro, Tachibana Takashi, Hayashida Akira, Murayama Miwa, Hisatomi Toshio, Nozu Kandai, Iijima Kazumoto, Ohga Shouichi, Sonoda Koh-Hei
Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka City, Japan.
Department of Ophthalmology, Kyushu University Graduate School of Medical Sciences, Fukuoka City, Japan.
J AAPOS. 2018 Oct;22(5):401-403.e1. doi: 10.1016/j.jaapos.2018.03.016. Epub 2018 Aug 16.
Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminin ß2 (LAMB2) gene, is characterized by congenital nephrotic syndrome and various ocular abnormalities. The ocular findings in Pierson syndrome are not well understood, because the incidence of this syndrome is very rare. We report ocular findings in a 5-month-old boy with Pierson syndrome with a novel mutation in LAMB2. We performed a pupilloplasty for his microcoria. Ophthalmic examinations after surgery revealed that he had cataract, severe retinal degeneration, and high myopia. Optical coherence tomography showed the collapse of retinal layer structures and a marked decrease of choroidal thickness. Immunohistochemistry and electron microscopy examinations revealed abnormal iris differentiation and thinning or defect of basal membranes. These results suggest that the development of the iris, lens, retina, and choroid are affected in this type of mutation.
皮尔逊综合征是一种由层粘连蛋白β2（LAMB2）基因突变引起的常染色体隐性疾病，其特征为先天性肾病综合征和各种眼部异常。由于该综合征的发病率极低，其眼部表现尚未得到充分了解。我们报告了一名5个月大患有皮尔逊综合征且LAMB2基因有新突变的男孩的眼部表现。我们为他的小瞳孔进行了瞳孔成形术。术后眼科检查发现他患有白内障、严重的视网膜变性和高度近视。光学相干断层扫描显示视网膜层结构塌陷，脉络膜厚度显著降低。免疫组织化学和电子显微镜检查显示虹膜分化异常以及基底膜变薄或缺失。这些结果表明，这种类型的突变会影响虹膜、晶状体、视网膜和脉络膜的发育。
