نتایج جستجو برای: peters anomaly
تعداد نتایج: 42218 فیلتر نتایج به سال:
We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported as having a new syndrome; the son had ...
Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in the paired domain: the R26G mutation, previously reported in a case of Peters'...
AIMS To assess retrospectively the prognosis and complications of corneal grafting for congenital opacities. METHODS Fifty eight eyes of infants and young children with congenital corneal opacities were studied retrospectively. Preoperative diagnoses included sclerocornea (27 eyes), Peters' anomaly (17 eyes), partial sclerocornea (12 eyes), and congenital glaucoma (two eyes). Penetrating kera...
Cited2 is a transcriptional modulator with pivotal roles in different biological processes. Cited2-deficient mouse embryos manifested two major defects in the developing eye. An abnormal corneal-lenticular stalk was characteristic of Cited2(-/-) developing eyes, a feature reminiscent of Peters' anomaly, which can be rescued by increased Pax6 gene dosage in Cited2(-/-) embryonic eyes. In additio...
PURPOSE To report our findings in an infant with Peters anomaly type II whose retinopathy of prematurity (ROP) was treated with an anti-VEGF agent and surgeries. CASE REPORT A male infant weighing 548 g was born prematurely at 23 weeks and 1 day with corneal opacity and shallow anterior chambers in both eyes. At the postmenstrual age of 35 weeks and 3 days, the infant was tentatively diagnose...
PURPOSE We examined histopathologically the anterior ocular segment including the cornea and lens of an eye which had been enucleated in a patient with Peters' anomaly because of untreatable corneal perforation. Special effort was made to differentiate the corneal stromal and endothelial cells, and the stromal extracellular matrix. METHODS Light microscopy, with hematoxylin and eosin staining...
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