Ophthalmological Aspects of Pierson Syndrome

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• 作者：Cecilie Bredrup ; Verena Matejas ; Margaret Barrow ; Kvě ; ta Blá ; hová ; Detlef Bockenhauer ; Darren J. Fowler ; Richard M. Gregson ; Iwona Maruniak-Chudek ; Ana Medeira ; Erica Laima Mendonç ; a
• 刊名：American Journal of Ophthalmology
• 出版年：2008
• 出版时间：October 2008
• 年：2008
• 卷：146
• 期：4
• 页码：602-611.e1
• 全文大小：1805 K

文摘

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.