Ophthalmological Apect of Pieron yndrome Original Reearch Article

Purpoe To tudy the ocular phenotype of Pieron yndrome and to increae awarene among ophthalmologit of the diagnotic feature of thi condition. Deign Retropective, obervational cae erie. Method A multicenter tudy of 17 patient with molecularly confirmed Pieron yndrome. The eye finding were reviewed and compared to pertinent finding from the literature. Reult The mot characteritic ocular anomaly wa microcoria. A wide range of additional abnormalitie were found, including poterior embryotoxon, megalocornea, iri hypoplaia, cataract, abnormal len hape, poterior lenticonu, peritent fetal vaculature, retinal detachment, variable axial length, and glaucoma. There wa high interocular and intrafamilial variability. Concluion Lo-of-function mutation in laminin β2 (LAMB2) caue a broad range of ocular pathology, emphaizing the importance of laminin β2 in eye development. Patient with Pieron yndrome can initially preent with ocular ign alone. In newborn with marked bilateral microcoria, Pieron yndrome hould be conidered and renal function invetigated.