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

Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminins2 ( LAMB2 ) gene, is characterized by congenital nephrotic syndromeand 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 choroidalthickness. 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 choroidare affected in this type of mutation.