Document Detail


Ophthalmological aspects of Pierson syndrome.
MedLine Citation:
PMID:  18672223     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability. CONCLUSIONS: Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 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.
Authors:
Cecilie Bredrup; Verena Matejas; Margaret Barrow; Kvĕta 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; Anand Saggar; Taylor Sawyer; Michael Schittkowski; Janusz Swietliński; Dorothy Thompson; Rene G VanDeVoorde; Dienke Wittebol-Post; Geoffrey Woodruff; Aleksandra Zurowska; Raoul C Hennekam; Martin Zenker; Isabelle Russell-Eggitt
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't     Date:  2008-07-31
Journal Detail:
Title:  American journal of ophthalmology     Volume:  146     ISSN:  1879-1891     ISO Abbreviation:  Am. J. Ophthalmol.     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-22     Completed Date:  2008-10-23     Revised Date:  2009-05-12    
Medline Journal Info:
Nlm Unique ID:  0370500     Medline TA:  Am J Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  602-611     Citation Subset:  AIM; IM    
Affiliation:
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  genetics
Eye Abnormalities / diagnosis*,  genetics
Female
Humans
Infant, Newborn
Iris / abnormalities*
Laminin / genetics
Male
Mutation, Missense / genetics
Nephrotic Syndrome / congenital*
Phenotype
Pupil Disorders / diagnosis*,  genetics
Retrospective Studies
Syndrome
Chemical
Reg. No./Substance:
0/Laminin; 124148-86-3/laminin beta2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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