Bredrup Cecilie, Matejas Verena, Barrow Margaret, Bláhová Kvĕta, 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, Swietliński Janusz, Thompson Dorothy, VanDeVoorde Rene G, Wittebol-Post Dienke, Woodruff Geoffrey, Zurowska Aleksandra, Hennekam Raoul C, Zenker Martin, Russell-Eggitt Isabelle
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31.
To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition.
Retrospective, observational case series.
A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature.
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.
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.
研究皮尔逊综合征的眼部表型，并提高眼科医生对该病症诊断特征的认识。
回顾性观察病例系列。
对17例经分子确诊的皮尔逊综合征患者进行多中心研究。对眼部检查结果进行回顾，并与文献中的相关结果进行比较。
最具特征性的眼部异常是小角膜。还发现了一系列其他异常，包括后胚胎环、大角膜、虹膜发育不全、白内障、晶状体形状异常、后圆锥形晶状体、永存原始玻璃体增生症、视网膜脱离、眼轴长度可变以及青光眼。双眼间和家族内存在高度变异性。
层粘连蛋白β2（LAMB2）功能丧失突变会导致广泛的眼部病变，强调了层粘连蛋白β2在眼部发育中的重要性。皮尔逊综合征患者最初可能仅表现为眼部体征。对于双侧小角膜明显的新生儿，应考虑皮尔逊综合征并进行肾功能检查。
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