ABSTRACT
Pierson syndrome, an autosomal recessive disorder caused by a mutation in laminin ß2 (LAMB2) gene, is characterized by congenital nephrotic syndrome and various ocular abnormalities. The ocular findings in Pierson syndrome are not well understood, because the incidence of this syndrome is very rare. We report ocular findings in a 5-month-old boy with Pierson syndrome with a novel mutation in LAMB2. We performed a pupilloplasty for his microcoria. Ophthalmic examinations after surgery revealed that he had cataract, severe retinal degeneration, and high myopia. Optical coherence tomography showed the collapse of retinal layer structures and a marked decrease of choroidal thickness. Immunohistochemistry and electron microscopy examinations revealed abnormal iris differentiation and thinning or defect of basal membranes. These results suggest that the development of the iris, lens, retina, and choroid are affected in this type of mutation.
Subject(s)
Abnormalities, Multiple , Cataract/pathology , Eye Abnormalities , Laminin/genetics , Mutation , Myopia, Degenerative/pathology , Nephrotic Syndrome , Pupil Disorders , Retinal Degeneration/pathology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Eye Abnormalities/genetics , Eye Abnormalities/pathology , Humans , Infant , Male , Myasthenic Syndromes, Congenital , Nephrotic Syndrome/genetics , Nephrotic Syndrome/pathology , Pupil Disorders/genetics , Pupil Disorders/pathologyABSTRACT
Visual loss caused by retinopathy of prematurity (ROP) will be prevented if treatment-requiring ROP (TR-ROP) can be predicted. In this retrospective study including 418 infants with ≤32 weeks of gestational age (GA) and/or ≤1500 grams of birthweight, we attempted to identify useful predictors. We also examined the efficiency of significant predictors compared with existing predictive models, ROPScore and CHOP model. Multivariable logistic regression analyses supported the following factors were useful for predicting TR-ROP from all infants and infants with any ROP: GA (odds ratio [OR], 0.47 and 0.48), history of late-onset circulatory collapse (LCC) (OR, 2.76 and 2.44) and use of continuous positive airway pressure (CPAP) at 35 weeks of postmenstrual age (OR, 3.78 and 4.50). The comparison of areas under receiver operating characteristic curves indicated the combination of LCC, CPAP and ROPScore was better than ROPScore to predict TR-ROP from all infants and infants with any ROP (P = 0.007 and 0.02) and the combination of LCC, CPAP and CHOP model was also better than CHOP model to predict TR-ROP from all infants and infants with any ROP (P = 0.01 and 0.02). Our results suggested infants with a history of LCC and a long CPAP support have a high incidence of TR-ROP.
