Ophthalmological Aspects of Pierson Syndrome

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 fi...

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Bibliographic Details
Published in:American journal of ophthalmology 2008-10, Vol.146 (4), p.602-611.e1
Main Authors: Bredrup, Cecilie, Matejas, Verena, Barrow, Margaret, Bláhová, Květa, 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, Świetliński, Janusz, Thompson, Dorothy, VanDeVoorde, Rene G, Wittebol-Post, Dienke, Woodruff, Geoffrey, Zurowska, Aleksandra, Hennekam, Raoul C, Zenker, Martin, Russell-Eggitt, Isabelle
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Age
Cataracts
Eye Abnormalities - diagnosis
Eye Abnormalities - genetics
Female
Glaucoma
Humans
Infant, Newborn
Iris - abnormalities
Laminin - genetics
Male
Mutation
Mutation, Missense - genetics
Nephrotic Syndrome - congenital
Ophthalmology
Patients
Phenotype
Pupil Disorders - diagnosis
Pupil Disorders - genetics
Retrospective Studies
Rodents
Syndrome
Ultrasonic imaging
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Summary: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 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.
ISSN:0002-9394
1879-1891
DOI:10.1016/j.ajo.2008.05.039