Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene

Mitsuru Arima, Shoko Tsukamoto, Rumi Akiyama, Kei Nishiyama, Ri ichiro Kohno, Takashi Tachibana, Akira Hayashida, Miwa Murayama, Toshio Hisatomi, Kandai Nozu, Kazumoto Iijima, Shouichi Ohga, Koh Hei Sonoda

研究成果: Contribution to journalArticle査読

1 被引用数 (Scopus)


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.

ジャーナルJournal of AAPOS
出版ステータス出版済み - 10 2018

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 眼科学


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