Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4004852 | American Journal of Ophthalmology | 2008 | 11 Pages |
Abstract
Loss-of-function mutations in laminin β2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin β2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.
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Authors
Cecilie Bredrup, Verena Matejas, Margaret Barrow, KvÄta Bláhová, Detlef Bockenhauer, Darren J. Fowler, Richard M. Gregson, Iwona Maruniak-Chudek, Ana Medeira, Erica Laima Mendonça, Mikhail Kagan, Jens Koenig, Hermann Krastel, Hester Y. Kroes,