Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 146, Issue 4, Pages 602-611Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ajo.2008.05.039
Keywords
-
Categories
Funding
- GERMAN RESEARCH FOUNDATION (DFG) [ZE 524/3-1]
- Great Ormond Street Hospital Childrens Charity [V0901] Funding Source: researchfish
Ask authors/readers for more resources
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 beta 2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta 2 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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available