Ophthalmological Aspects of Pierson Syndrome

• 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
• ISSN: 0002-9394; 1879-1891
• DOI: 10.1016/j.ajo.2008.05.039

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.