نتایج جستجو برای: peters
تعداد نتایج: 3200 فیلتر نتایج به سال:
PURPOSE To determine whether sequence variations in the congenital glaucoma gene, CYP1B1, are present in individuals with Peters' anomaly, a developmental eye anomaly frequently associated with glaucoma. METHODS The CYP1B1 coding region was screened in 26 individuals with Peters' anomaly (9 familial and 17 simplex cases) by heteroduplex analysis using the Transgenomic Wave nucleic acid fragme...
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to encode a beta1,3-glucosyltransferase involved in the...
BACKGROUND Cases of cataract surgery without penetrating keratoplasty in patients with Peters' anomaly are very rare. We report a case of Peters' anomaly type 2 with tilted lens due to synechia between the lens and iris that was treated with cataract surgery without penetrating keratoplasty. CASE PRESENTATION A 16-year-old girl had Peters' anomaly in both eyes. Corneal opacity was severe in t...
AIMS To clarify the developmental mechanism and critical period for the uncommon complex of Peters' anomaly and persistent hyperplastic primary vitreous (PHPV). METHODS Two eyes with Peters' anomaly and PHPV were histologically examined by serial section. One eye was enucleated at age 7 months (case 1) and the other at age 4 months (case 2) owing to severe anterior staphyloma. RESULTS In bo...
The struggle for regional government in Auckland The 1966 Encyclopaedia of New Zealand had some quite interesting things to say about the future of local government. In a brief article it noted the disjunction between rapidly growing urban areas, like Auckland, and their fragmented local government systems, resulting in problems of planning, coordination and the execution of regional works and ...
The work described here was started to extend knowledge of the relative effects of fluoro compounds with special reference to fluoroacetate and fluorocitrate; it was hoped that it would have particular application to effects upon the liver and to the biochemical mechanism of convulsions induced by fluorocitrate. Bartlett & Barron (1947) showed originally that acetate accumulates after fluoroace...
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