Ophthalmological aspects of Pierson syndrome.

doi:10.1016/j.ajo.2008.05.039

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Article

Ophthalmological aspects of Pierson syndrome.

American journal of ophthalmology - 1 Oct 2008

Bredrup Cecilie, Matejas Verena, Barrow Margaret, Bláhová Kvĕta, Bockenhauer Detlef, Fowler Darren J, Gregson Richard M, Maruniak-Chudek Iwona, Medeira Ana, Mendonça Erica Laima, Kagan Mikhail, Koenig Jens, Krastel Hermann, Kroes Hester Y, Saggar Anand, Sawyer Taylor, Schittkowski Michael, Swietliński Janusz, Thompson Dorothy, VanDeVoorde Rene G, Wittebol-Post Dienke, Woodruff Geoffrey, Zurowska Aleksandra, Hennekam Raoul C, Zenker Martin, Russell-Eggitt Isabelle

Abstract excerpt

PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. DESIGN: Retrospective, observational case series. METHODS: A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature. RESULTS: The most characteristic...

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Identifiers

PMID: 18672223
DOI: 10.1016/j.ajo.2008.05.039

Genes

LAMB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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