Article
Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2018
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
Abstract excerpt
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...
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